dbSNP Short Genetic Variations
Welcome to the Reference SNP (rs) Report
All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.
Reference SNP (rs) Report
This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.
rs889312
Current Build 156
Released September 21, 2022
- Organism
- Homo sapiens
- Position
-
chr5:56736057 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
- Alleles
- C>A / C>T
- Variation Type
- SNV Single Nucleotide Variation
- Frequency
-
C=0.302013 (93005/307950, ALFA)C=0.332389 (87980/264690, TOPMED)C=0.312632 (43746/139928, GnomAD) (+ 20 more)
- Clinical Significance
- Not Reported in ClinVar
- Gene : Consequence
-
None
- Publications
- 150 citations
- Genomic View
- See rs on genome
ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.
Release Version: 20231103111315
| Population | Group | Sample Size | Ref Allele | Alt Allele | Ref HMOZ | Alt HMOZ | HTRZ | HWEP |
|---|---|---|---|---|---|---|---|---|
| Total | Global | 313200 | C=0.302248 | A=0.697752, T=0.000000 | 0.095485 | 0.49099 | 0.413525 | 32 |
| European | Sub | 267984 | C=0.286610 | A=0.713390, T=0.000000 | 0.082945 | 0.509724 | 0.40733 | 1 |
| African | Sub | 9302 | C=0.3671 | A=0.6329, T=0.0000 | 0.15158 | 0.41733 | 0.43109 | 14 |
| African Others | Sub | 358 | C=0.355 | A=0.645, T=0.000 | 0.150838 | 0.441341 | 0.407821 | 1 |
| African American | Sub | 8944 | C=0.3676 | A=0.6324, T=0.0000 | 0.15161 | 0.416369 | 0.432021 | 13 |
| Asian | Sub | 6842 | C=0.5314 | A=0.4686, T=0.0000 | 0.289097 | 0.22625 | 0.484654 | 2 |
| East Asian | Sub | 4916 | C=0.5360 | A=0.4640, T=0.0000 | 0.293328 | 0.221318 | 0.485354 | 1 |
| Other Asian | Sub | 1926 | C=0.5197 | A=0.4803, T=0.0000 | 0.278297 | 0.238837 | 0.482866 | 1 |
| Latin American 1 | Sub | 1000 | C=0.364 | A=0.636, T=0.000 | 0.142 | 0.414 | 0.444 | 1 |
| Latin American 2 | Sub | 6602 | C=0.4218 | A=0.5782, T=0.0000 | 0.179945 | 0.336262 | 0.483793 | 0 |
| South Asian | Sub | 5144 | C=0.3717 | A=0.6283, T=0.0000 | 0.147356 | 0.403966 | 0.448678 | 3 |
| Other | Sub | 16326 | C=0.35189 | A=0.64811, T=0.00000 | 0.134877 | 0.431092 | 0.434032 | 11 |
Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").
Download| Study | Population | Group | Sample Size | Ref Allele | Alt Allele |
|---|---|---|---|---|---|
| Allele Frequency Aggregator | Total | Global | 307950 | C=0.302013 | A=0.697987, T=0.000000 |
| Allele Frequency Aggregator | European | Sub | 264710 | C=0.286491 | A=0.713509, T=0.000000 |
| Allele Frequency Aggregator | Other | Sub | 15504 | C=0.35178 | A=0.64822, T=0.00000 |
| Allele Frequency Aggregator | African | Sub | 8148 | C=0.3703 | A=0.6297, T=0.0000 |
| Allele Frequency Aggregator | Asian | Sub | 6842 | C=0.5314 | A=0.4686, T=0.0000 |
| Allele Frequency Aggregator | Latin American 2 | Sub | 6602 | C=0.4218 | A=0.5782, T=0.0000 |
| Allele Frequency Aggregator | South Asian | Sub | 5144 | C=0.3717 | A=0.6283, T=0.0000 |
| Allele Frequency Aggregator | Latin American 1 | Sub | 1000 | C=0.364 | A=0.636, T=0.000 |
| TopMed | Global | Study-wide | 264690 | C=0.332389 | A=0.667611 |
| gnomAD - Genomes | Global | Study-wide | 139928 | C=0.312632 | A=0.687368 |
| gnomAD - Genomes | European | Sub | 75828 | C=0.27609 | A=0.72391 |
| gnomAD - Genomes | African | Sub | 41894 | C=0.33358 | A=0.66642 |
| gnomAD - Genomes | American | Sub | 13618 | C=0.38904 | A=0.61096 |
| gnomAD - Genomes | Ashkenazi Jewish | Sub | 3322 | C=0.3188 | A=0.6812 |
| gnomAD - Genomes | East Asian | Sub | 3118 | C=0.5574 | A=0.4426 |
| gnomAD - Genomes | Other | Sub | 2148 | C=0.3450 | A=0.6550 |
| The PAGE Study | Global | Study-wide | 78698 | C=0.39793 | A=0.60207 |
| The PAGE Study | AfricanAmerican | Sub | 32514 | C=0.33626 | A=0.66374 |
| The PAGE Study | Mexican | Sub | 10810 | C=0.41813 | A=0.58187 |
| The PAGE Study | Asian | Sub | 8318 | C=0.5753 | A=0.4247 |
| The PAGE Study | PuertoRican | Sub | 7918 | C=0.3847 | A=0.6153 |
| The PAGE Study | NativeHawaiian | Sub | 4534 | C=0.5805 | A=0.4195 |
| The PAGE Study | Cuban | Sub | 4230 | C=0.3388 | A=0.6612 |
| The PAGE Study | Dominican | Sub | 3826 | C=0.3442 | A=0.6558 |
| The PAGE Study | CentralAmerican | Sub | 2450 | C=0.4237 | A=0.5763 |
| The PAGE Study | SouthAmerican | Sub | 1982 | C=0.4243 | A=0.5757 |
| The PAGE Study | NativeAmerican | Sub | 1260 | C=0.3421 | A=0.6579 |
| The PAGE Study | SouthAsian | Sub | 856 | C=0.397 | A=0.603 |
| 14KJPN | JAPANESE | Study-wide | 28258 | C=0.58256 | A=0.41744 |
| 8.3KJPN | JAPANESE | Study-wide | 16760 | C=0.58270 | A=0.41730 |
| 1000Genomes_30x | Global | Study-wide | 6404 | C=0.3826 | A=0.6174 |
| 1000Genomes_30x | African | Sub | 1786 | C=0.3337 | A=0.6663 |
| 1000Genomes_30x | Europe | Sub | 1266 | C=0.2875 | A=0.7125 |
| 1000Genomes_30x | South Asian | Sub | 1202 | C=0.3835 | A=0.6165 |
| 1000Genomes_30x | East Asian | Sub | 1170 | C=0.5385 | A=0.4615 |
| 1000Genomes_30x | American | Sub | 980 | C=0.407 | A=0.593 |
| 1000Genomes | Global | Study-wide | 5008 | C=0.3870 | A=0.6130 |
| 1000Genomes | African | Sub | 1322 | C=0.3374 | A=0.6626 |
| 1000Genomes | East Asian | Sub | 1008 | C=0.5347 | A=0.4653 |
| 1000Genomes | Europe | Sub | 1006 | C=0.2833 | A=0.7167 |
| 1000Genomes | South Asian | Sub | 978 | C=0.392 | A=0.608 |
| 1000Genomes | American | Sub | 694 | C=0.411 | A=0.589 |
| Genetic variation in the Estonian population | Estonian | Study-wide | 4480 | C=0.2748 | A=0.7252 |
| The Avon Longitudinal Study of Parents and Children | PARENT AND CHILD COHORT | Study-wide | 3854 | C=0.2833 | A=0.7167 |
| UK 10K study - Twins | TWIN COHORT | Study-wide | 3708 | C=0.2713 | A=0.7287 |
| KOREAN population from KRGDB | KOREAN | Study-wide | 2930 | C=0.5597 | A=0.4403 |
| Korean Genome Project | KOREAN | Study-wide | 1832 | C=0.5590 | A=0.4410 |
| Genome-wide autozygosity in Daghestan | Global | Study-wide | 1116 | C=0.3486 | A=0.6514 |
| Genome-wide autozygosity in Daghestan | Daghestan | Sub | 616 | C=0.354 | A=0.646 |
| Genome-wide autozygosity in Daghestan | Near_East | Sub | 144 | C=0.319 | A=0.681 |
| Genome-wide autozygosity in Daghestan | Central Asia | Sub | 120 | C=0.392 | A=0.608 |
| Genome-wide autozygosity in Daghestan | Europe | Sub | 106 | C=0.302 | A=0.698 |
| Genome-wide autozygosity in Daghestan | South Asian | Sub | 94 | C=0.37 | A=0.63 |
| Genome-wide autozygosity in Daghestan | Caucasus | Sub | 36 | C=0.31 | A=0.69 |
| Genome of the Netherlands Release 5 | Genome of the Netherlands | Study-wide | 998 | C=0.269 | A=0.731 |
| CNV burdens in cranial meningiomas | Global | Study-wide | 790 | C=0.490 | A=0.510 |
| CNV burdens in cranial meningiomas | CRM | Sub | 790 | C=0.490 | A=0.510 |
| Northern Sweden | ACPOP | Study-wide | 600 | C=0.268 | A=0.732 |
| SGDP_PRJ | Global | Study-wide | 448 | C=0.295 | A=0.705 |
| HapMap | Global | Study-wide | 324 | C=0.380 | A=0.620 |
| HapMap | American | Sub | 120 | C=0.308 | A=0.692 |
| HapMap | African | Sub | 116 | C=0.328 | A=0.672 |
| HapMap | Asian | Sub | 88 | C=0.55 | A=0.45 |
| Qatari | Global | Study-wide | 216 | C=0.319 | A=0.681 |
| Ancient Sardinia genome-wide 1240k capture data generation and analysis | Global | Study-wide | 80 | C=0.20 | A=0.80 |
| Siberian | Global | Study-wide | 50 | C=0.30 | A=0.70 |
| The Danish reference pan genome | Danish | Study-wide | 40 | C=0.33 | A=0.68 |
Help
Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.
Genomic Placements
| Sequence name | Change |
|---|---|
| GRCh38.p14 chr 5 | NC_000005.10:g.56736057C>A |
| GRCh38.p14 chr 5 | NC_000005.10:g.56736057C>T |
| GRCh37.p13 chr 5 | NC_000005.9:g.56031884C>A |
| GRCh37.p13 chr 5 | NC_000005.9:g.56031884C>T |
Help
Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.
Not Reported in ClinVar
Help
Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".
| Placement | C= | A | T |
|---|---|---|---|
| GRCh38.p14 chr 5 | NC_000005.10:g.56736057= | NC_000005.10:g.56736057C>A | NC_000005.10:g.56736057C>T |
| GRCh37.p13 chr 5 | NC_000005.9:g.56031884= | NC_000005.9:g.56031884C>A | NC_000005.9:g.56031884C>T |
Help
Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.
156 SubSNP,
23 Frequency
submissions
| No | Submitter | Submission ID | Date (Build) |
|---|---|---|---|
| 1 | TSC-CSHL | ss1317916 | Oct 05, 2000 (86) |
| 2 | WI_SSAHASNP | ss14639572 | Dec 05, 2003 (119) |
| 3 | SC_SNP | ss14836424 | Dec 05, 2003 (119) |
| 4 | CSHL-HAPMAP | ss17852237 | Feb 27, 2004 (120) |
| 5 | SSAHASNP | ss22248860 | Apr 05, 2004 (121) |
| 6 | PERLEGEN | ss23920837 | Sep 20, 2004 (123) |
| 7 | HGSV | ss78912874 | Dec 07, 2007 (129) |
| 8 | HGSV | ss83321073 | Dec 15, 2007 (130) |
| 9 | BCMHGSC_JDW | ss93103229 | Mar 24, 2008 (129) |
| 10 | HUMANGENOME_JCVI | ss98619465 | Feb 05, 2009 (130) |
| 11 | SNP500CANCER | ss105440208 | Feb 05, 2009 (130) |
| 12 | BGI | ss105925334 | Feb 05, 2009 (130) |
| 13 | 1000GENOMES | ss109050694 | Jan 23, 2009 (130) |
| 14 | 1000GENOMES | ss111858741 | Jan 25, 2009 (130) |
| 15 | ILLUMINA-UK | ss116619010 | Feb 14, 2009 (130) |
| 16 | WTCCC | ss120250965 | Dec 01, 2009 (131) |
| 17 | ENSEMBL | ss143148957 | Dec 01, 2009 (131) |
| 18 | ENSEMBL | ss143346059 | Dec 01, 2009 (131) |
| 19 | ILLUMINA | ss154478093 | Dec 01, 2009 (131) |
| 20 | GMI | ss155455211 | Dec 01, 2009 (131) |
| 21 | ILLUMINA | ss159652514 | Dec 01, 2009 (131) |
| 22 | ILLUMINA | ss160963362 | Dec 01, 2009 (131) |
| 23 | COMPLETE_GENOMICS | ss162268108 | Jul 04, 2010 (132) |
| 24 | COMPLETE_GENOMICS | ss164977199 | Jul 04, 2010 (132) |
| 25 | COMPLETE_GENOMICS | ss166560052 | Jul 04, 2010 (132) |
| 26 | ILLUMINA | ss172422310 | Jul 04, 2010 (132) |
| 27 | ILLUMINA | ss174768598 | Jul 04, 2010 (132) |
| 28 | BUSHMAN | ss200268320 | Jul 04, 2010 (132) |
| 29 | BCM-HGSC-SUB | ss206823389 | Jul 04, 2010 (132) |
| 30 | 1000GENOMES | ss221686120 | Jul 14, 2010 (132) |
| 31 | 1000GENOMES | ss232951713 | Jul 14, 2010 (132) |
| 32 | 1000GENOMES | ss240123053 | Jul 15, 2010 (132) |
| 33 | BL | ss253470436 | May 09, 2011 (134) |
| 34 | GMI | ss278297470 | May 04, 2012 (137) |
| 35 | GMI | ss285180311 | Apr 25, 2013 (138) |
| 36 | PJP | ss293360642 | May 09, 2011 (134) |
| 37 | PAGE_STUDY | ss469414485 | May 04, 2012 (137) |
| 38 | PAGE_STUDY | ss469415237 | May 04, 2012 (137) |
| 39 | PAGE_STUDY | ss469996412 | May 04, 2012 (137) |
| 40 | ILLUMINA | ss481827220 | May 04, 2012 (137) |
| 41 | ILLUMINA | ss481859725 | May 04, 2012 (137) |
| 42 | ILLUMINA | ss482818883 | Sep 08, 2015 (146) |
| 43 | ILLUMINA | ss485708132 | May 04, 2012 (137) |
| 44 | EXOME_CHIP | ss491366650 | May 04, 2012 (137) |
| 45 | ILLUMINA | ss537571407 | Sep 08, 2015 (146) |
| 46 | TISHKOFF | ss558400670 | Apr 25, 2013 (138) |
| 47 | SSMP | ss652267561 | Apr 25, 2013 (138) |
| 48 | ILLUMINA | ss778631329 | Sep 08, 2015 (146) |
| 49 | ILLUMINA | ss780687163 | Sep 08, 2015 (146) |
| 50 | ILLUMINA | ss783299676 | Sep 08, 2015 (146) |
| 51 | ILLUMINA | ss783360706 | Sep 08, 2015 (146) |
| 52 | ILLUMINA | ss784252005 | Sep 08, 2015 (146) |
| 53 | ILLUMINA | ss832561014 | Sep 08, 2015 (146) |
| 54 | ILLUMINA | ss833163322 | Jul 13, 2019 (153) |
| 55 | ILLUMINA | ss834088945 | Sep 08, 2015 (146) |
| 56 | EVA-GONL | ss981578899 | Aug 21, 2014 (142) |
| 57 | JMKIDD_LAB | ss1072641471 | Aug 21, 2014 (142) |
| 58 | 1000GENOMES | ss1315151986 | Aug 21, 2014 (142) |
| 59 | HAMMER_LAB | ss1397413227 | Sep 08, 2015 (146) |
| 60 | DDI | ss1430347418 | Apr 01, 2015 (144) |
| 61 | CLINVAR | ss1457608614 | Nov 23, 2014 (142) |
| 62 | EVA_GENOME_DK | ss1581143322 | Apr 01, 2015 (144) |
| 63 | EVA_DECODE | ss1591097773 | Apr 01, 2015 (144) |
| 64 | EVA_UK10K_ALSPAC | ss1612916774 | Apr 01, 2015 (144) |
| 65 | EVA_UK10K_TWINSUK | ss1655910807 | Apr 01, 2015 (144) |
| 66 | ILLUMINA | ss1752578850 | Sep 08, 2015 (146) |
| 67 | ILLUMINA | ss1752578851 | Sep 08, 2015 (146) |
| 68 | HAMMER_LAB | ss1803535143 | Sep 08, 2015 (146) |
| 69 | ILLUMINA | ss1917789960 | Feb 12, 2016 (147) |
| 70 | WEILL_CORNELL_DGM | ss1924837238 | Feb 12, 2016 (147) |
| 71 | ILLUMINA | ss1946144423 | Feb 12, 2016 (147) |
| 72 | ILLUMINA | ss1946144424 | Feb 12, 2016 (147) |
| 73 | ILLUMINA | ss1958788003 | Feb 12, 2016 (147) |
| 74 | ILLUMINA | ss1958788004 | Feb 12, 2016 (147) |
| 75 | GENOMED | ss1970090687 | Jul 19, 2016 (147) |
| 76 | JJLAB | ss2023022675 | Sep 14, 2016 (149) |
| 77 | ILLUMINA | ss2094818304 | Dec 20, 2016 (150) |
| 78 | ILLUMINA | ss2095156732 | Dec 20, 2016 (150) |
| 79 | USC_VALOUEV | ss2151178380 | Dec 20, 2016 (150) |
| 80 | HUMAN_LONGEVITY | ss2273801535 | Dec 20, 2016 (150) |
| 81 | SYSTEMSBIOZJU | ss2626009115 | Nov 08, 2017 (151) |
| 82 | ILLUMINA | ss2634280567 | Nov 08, 2017 (151) |
| 83 | ILLUMINA | ss2635144388 | Nov 08, 2017 (151) |
| 84 | GRF | ss2706720987 | Nov 08, 2017 (151) |
| 85 | ILLUMINA | ss2711037467 | Nov 08, 2017 (151) |
| 86 | GNOMAD | ss2824750950 | Nov 08, 2017 (151) |
| 87 | AFFY | ss2985321747 | Nov 08, 2017 (151) |
| 88 | AFFY | ss2985952854 | Nov 08, 2017 (151) |
| 89 | SWEGEN | ss2996955316 | Nov 08, 2017 (151) |
| 90 | ILLUMINA | ss3022489577 | Nov 08, 2017 (151) |
| 91 | ILLUMINA | ss3022489578 | Nov 08, 2017 (151) |
| 92 | BIOINF_KMB_FNS_UNIBA | ss3025295698 | Nov 08, 2017 (151) |
| 93 | CSHL | ss3346394172 | Nov 08, 2017 (151) |
| 94 | ILLUMINA | ss3629237787 | Oct 12, 2018 (152) |
| 95 | ILLUMINA | ss3629237788 | Oct 12, 2018 (152) |
| 96 | ILLUMINA | ss3632207657 | Oct 12, 2018 (152) |
| 97 | ILLUMINA | ss3633374497 | Oct 12, 2018 (152) |
| 98 | ILLUMINA | ss3634095092 | Oct 12, 2018 (152) |
| 99 | ILLUMINA | ss3635002279 | Oct 12, 2018 (152) |
| 100 | ILLUMINA | ss3635002280 | Oct 12, 2018 (152) |
| 101 | ILLUMINA | ss3636713293 | Oct 12, 2018 (152) |
| 102 | ILLUMINA | ss3637529732 | Oct 12, 2018 (152) |
| 103 | ILLUMINA | ss3638554181 | Oct 12, 2018 (152) |
| 104 | ILLUMINA | ss3640709572 | Oct 12, 2018 (152) |
| 105 | ILLUMINA | ss3640709573 | Oct 12, 2018 (152) |
| 106 | ILLUMINA | ss3644877352 | Oct 12, 2018 (152) |
| 107 | URBANLAB | ss3648063988 | Oct 12, 2018 (152) |
| 108 | ILLUMINA | ss3652985528 | Oct 12, 2018 (152) |
| 109 | ILLUMINA | ss3652985529 | Oct 12, 2018 (152) |
| 110 | ILLUMINA | ss3654095174 | Oct 12, 2018 (152) |
| 111 | EGCUT_WGS | ss3664833026 | Jul 13, 2019 (153) |
| 112 | EVA_DECODE | ss3714712153 | Jul 13, 2019 (153) |
| 113 | ILLUMINA | ss3726233687 | Jul 13, 2019 (153) |
| 114 | ACPOP | ss3732367345 | Jul 13, 2019 (153) |
| 115 | ILLUMINA | ss3744253000 | Jul 13, 2019 (153) |
| 116 | ILLUMINA | ss3744535495 | Jul 13, 2019 (153) |
| 117 | ILLUMINA | ss3745302489 | Jul 13, 2019 (153) |
| 118 | ILLUMINA | ss3745302490 | Jul 13, 2019 (153) |
| 119 | EVA | ss3763447216 | Jul 13, 2019 (153) |
| 120 | PAGE_CC | ss3771202525 | Jul 13, 2019 (153) |
| 121 | ILLUMINA | ss3772796690 | Jul 13, 2019 (153) |
| 122 | ILLUMINA | ss3772796691 | Jul 13, 2019 (153) |
| 123 | PACBIO | ss3785113981 | Jul 13, 2019 (153) |
| 124 | PACBIO | ss3790520045 | Jul 13, 2019 (153) |
| 125 | PACBIO | ss3795396670 | Jul 13, 2019 (153) |
| 126 | KHV_HUMAN_GENOMES | ss3806618428 | Jul 13, 2019 (153) |
| 127 | EVA | ss3829250957 | Apr 26, 2020 (154) |
| 128 | EVA | ss3838096857 | Apr 26, 2020 (154) |
| 129 | EVA | ss3843537465 | Apr 26, 2020 (154) |
| 130 | SGDP_PRJ | ss3861882092 | Apr 26, 2020 (154) |
| 131 | KRGDB | ss3908419299 | Apr 26, 2020 (154) |
| 132 | KOGIC | ss3956714412 | Apr 26, 2020 (154) |
| 133 | EVA | ss3984547189 | Apr 26, 2021 (155) |
| 134 | EVA | ss3985141583 | Apr 26, 2021 (155) |
| 135 | EVA | ss4017207303 | Apr 26, 2021 (155) |
| 136 | TOPMED | ss4660388226 | Apr 26, 2021 (155) |
| 137 | TOMMO_GENOMICS | ss5171800019 | Apr 26, 2021 (155) |
| 138 | EVA | ss5237371562 | Apr 26, 2021 (155) |
| 139 | 1000G_HIGH_COVERAGE | ss5264020746 | Oct 13, 2022 (156) |
| 140 | EVA | ss5315052381 | Oct 13, 2022 (156) |
| 141 | EVA | ss5357649930 | Oct 13, 2022 (156) |
| 142 | HUGCELL_USP | ss5462198100 | Oct 13, 2022 (156) |
| 143 | EVA | ss5508026808 | Oct 13, 2022 (156) |
| 144 | 1000G_HIGH_COVERAGE | ss5547693861 | Oct 13, 2022 (156) |
| 145 | SANFORD_IMAGENETICS | ss5624589389 | Oct 13, 2022 (156) |
| 146 | SANFORD_IMAGENETICS | ss5637831301 | Oct 13, 2022 (156) |
| 147 | TOMMO_GENOMICS | ss5708213150 | Oct 13, 2022 (156) |
| 148 | EVA | ss5799648863 | Oct 13, 2022 (156) |
| 149 | YY_MCH | ss5806334037 | Oct 13, 2022 (156) |
| 150 | EVA | ss5834945656 | Oct 13, 2022 (156) |
| 151 | EVA | ss5847266354 | Oct 13, 2022 (156) |
| 152 | EVA | ss5848049636 | Oct 13, 2022 (156) |
| 153 | EVA | ss5854819232 | Oct 13, 2022 (156) |
| 154 | EVA | ss5894239014 | Oct 13, 2022 (156) |
| 155 | EVA | ss5966255420 | Oct 13, 2022 (156) |
| 156 | EVA | ss5979739913 | Oct 13, 2022 (156) |
| 157 | 1000Genomes | NC_000005.9 - 56031884 | Oct 12, 2018 (152) |
| 158 | 1000Genomes_30x | NC_000005.10 - 56736057 | Oct 13, 2022 (156) |
| 159 | The Avon Longitudinal Study of Parents and Children | NC_000005.9 - 56031884 | Oct 12, 2018 (152) |
| 160 | Genome-wide autozygosity in Daghestan | NC_000005.8 - 56067641 | Apr 26, 2020 (154) |
| 161 | Genetic variation in the Estonian population | NC_000005.9 - 56031884 | Oct 12, 2018 (152) |
| 162 | The Danish reference pan genome | NC_000005.9 - 56031884 | Apr 26, 2020 (154) |
| 163 | gnomAD - Genomes | NC_000005.10 - 56736057 | Apr 26, 2021 (155) |
| 164 | Genome of the Netherlands Release 5 | NC_000005.9 - 56031884 | Apr 26, 2020 (154) |
| 165 | HapMap | NC_000005.10 - 56736057 | Apr 26, 2020 (154) |
| 166 | KOREAN population from KRGDB | NC_000005.9 - 56031884 | Apr 26, 2020 (154) |
| 167 | Korean Genome Project | NC_000005.10 - 56736057 | Apr 26, 2020 (154) |
| 168 | Northern Sweden | NC_000005.9 - 56031884 | Jul 13, 2019 (153) |
| 169 | The PAGE Study | NC_000005.10 - 56736057 | Jul 13, 2019 (153) |
| 170 | Ancient Sardinia genome-wide 1240k capture data generation and analysis | NC_000005.9 - 56031884 | Apr 26, 2021 (155) |
| 171 | CNV burdens in cranial meningiomas | NC_000005.9 - 56031884 | Apr 26, 2021 (155) |
| 172 | Qatari | NC_000005.9 - 56031884 | Apr 26, 2020 (154) |
| 173 | SGDP_PRJ | NC_000005.9 - 56031884 | Apr 26, 2020 (154) |
| 174 | Siberian | NC_000005.9 - 56031884 | Apr 26, 2020 (154) |
| 175 | 8.3KJPN | NC_000005.9 - 56031884 | Apr 26, 2021 (155) |
| 176 | 14KJPN | NC_000005.10 - 56736057 | Oct 13, 2022 (156) |
| 177 | TopMed | NC_000005.10 - 56736057 | Apr 26, 2021 (155) |
| 178 | UK 10K study - Twins | NC_000005.9 - 56031884 | Oct 12, 2018 (152) |
| 179 | ALFA | NC_000005.10 - 56736057 | Apr 26, 2021 (155) |
Help
History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).
| Associated ID | History Updated (Build) |
|---|---|
| rs59274930 | May 25, 2008 (130) |
Added to this RefSNP Cluster:
| Submission IDs | Observation SPDI | Canonical SPDI | Source RSIDs |
|---|---|---|---|
| 388264, ss78912874, ss83321073, ss93103229, ss109050694, ss111858741, ss116619010, ss162268108, ss164977199, ss166560052, ss200268320, ss206823389, ss253470436, ss278297470, ss285180311, ss293360642, ss481827220, ss1397413227, ss1591097773, ss2635144388 | NC_000005.8:56067640:C:A | NC_000005.10:56736056:C:A | (self) |
| 26753464, 14871317, 10571274, 7308261, 6611614, 15596693, 5652210, 367510, 96556, 6879168, 13899072, 3694734, 29769326, 14871317, ss221686120, ss232951713, ss240123053, ss481859725, ss482818883, ss485708132, ss491366650, ss537571407, ss558400670, ss652267561, ss778631329, ss780687163, ss783299676, ss783360706, ss784252005, ss832561014, ss833163322, ss834088945, ss981578899, ss1072641471, ss1315151986, ss1430347418, ss1581143322, ss1612916774, ss1655910807, ss1752578850, ss1752578851, ss1803535143, ss1917789960, ss1924837238, ss1946144423, ss1946144424, ss1958788003, ss1958788004, ss1970090687, ss2023022675, ss2094818304, ss2095156732, ss2151178380, ss2626009115, ss2634280567, ss2706720987, ss2711037467, ss2824750950, ss2985321747, ss2985952854, ss2996955316, ss3022489577, ss3022489578, ss3346394172, ss3629237787, ss3629237788, ss3632207657, ss3633374497, ss3634095092, ss3635002279, ss3635002280, ss3636713293, ss3637529732, ss3638554181, ss3640709572, ss3640709573, ss3644877352, ss3652985528, ss3652985529, ss3654095174, ss3664833026, ss3732367345, ss3744253000, ss3744535495, ss3745302489, ss3745302490, ss3763447216, ss3772796690, ss3772796691, ss3785113981, ss3790520045, ss3795396670, ss3829250957, ss3838096857, ss3861882092, ss3908419299, ss3984547189, ss3985141583, ss4017207303, ss5171800019, ss5237371562, ss5315052381, ss5357649930, ss5508026808, ss5624589389, ss5637831301, ss5799648863, ss5834945656, ss5847266354, ss5848049636, ss5966255420, ss5979739913 | NC_000005.9:56031883:C:A | NC_000005.10:56736056:C:A | (self) |
| 35219796, 189036795, 2868708, 13092413, 423994, 42050254, 497765783, 2594976540, ss1457608614, ss2273801535, ss3025295698, ss3648063988, ss3714712153, ss3726233687, ss3771202525, ss3806618428, ss3843537465, ss3956714412, ss4660388226, ss5264020746, ss5462198100, ss5547693861, ss5708213150, ss5806334037, ss5854819232, ss5894239014 | NC_000005.10:56736056:C:A | NC_000005.10:56736056:C:A | (self) |
| ss14639572, ss14836424, ss17852237, ss22248860 | NT_006431.13:6596626:C:A | NC_000005.10:56736056:C:A | (self) |
| ss1317916, ss23920837, ss98619465, ss105440208, ss105925334, ss120250965, ss143148957, ss143346059, ss154478093, ss155455211, ss159652514, ss160963362, ss172422310, ss174768598, ss469414485, ss469415237, ss469996412 | NT_006713.15:6626242:C:A | NC_000005.10:56736056:C:A | (self) |
| 2594976540 | NC_000005.10:56736056:C:T | NC_000005.10:56736056:C:T | (self) |
Help
Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.
150
citations for rs889312
| PMID | Title | Author | Year | Journal |
|---|---|---|---|---|
| 17529967 | Genome-wide association study identifies novel breast cancer susceptibility loci. | Easton DF et al. | 2007 | Nature |
| 17997823 | Clinical correlates of low-risk variants in FGFR2, TNRC9, MAP3K1, LSP1 and 8q24 in a Dutch cohort of incident breast cancer cases. | Huijts PE et al. | 2007 | Breast cancer research |
| 18224312 | Pharmacogenetics: data, concepts and tools to improve drug discovery and drug treatment. | Brockmöller J et al. | 2008 | European journal of clinical pharmacology |
| 18355772 | Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. | Antoniou AC et al. | 2008 | American journal of human genetics |
| 18437204 | Heterogeneity of breast cancer associations with five susceptibility loci by clinical and pathological characteristics. | Garcia-Closas M et al. | 2008 | PLoS genetics |
| 18612136 | Discriminatory accuracy from single-nucleotide polymorphisms in models to predict breast cancer risk. | Gail MH et al. | 2008 | Journal of the National Cancer Institute |
| 18681954 | Breast cancer susceptibility loci and mammographic density. | Tamimi RM et al. | 2008 | Breast cancer research |
| 18708391 | Breast cancer risk polymorphisms and interaction with ionizing radiation among U.S. radiologic technologists. | Bhatti P et al. | 2008 | Cancer epidemiology, biomarkers & prevention |
| 18772892 | Can genes for mammographic density inform cancer aetiology? | Kelemen LE et al. | 2008 | Nature reviews. Cancer |
| 18785201 | Novel breast cancer risk alleles and endometrial cancer risk. | McGrath M et al. | 2008 | International journal of cancer |
| 18973230 | Breast cancer susceptibility alleles and ovarian cancer risk in 2 study populations. | Gates MA et al. | 2009 | International journal of cancer |
| 19028704 | Hormone-dependent effects of FGFR2 and MAP3K1 in breast cancer susceptibility in a population-based sample of post-menopausal African-American and European-American women. | Rebbeck TR et al. | 2009 | Carcinogenesis |
| 19088016 | Genetic susceptibility loci for breast cancer by estrogen receptor status. | Garcia-Closas M et al. | 2008 | Clinical cancer research |
| 19092773 | Breast cancer susceptibility: current knowledge and implications for genetic counselling. | Ripperger T et al. | 2009 | European journal of human genetics |
| 19094228 | The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer. | Tapper W et al. | 2008 | Breast cancer research |
| 19232126 | Association between breast cancer susceptibility loci and mammographic density: the Multiethnic Cohort. | Woolcott CG et al. | 2009 | Breast cancer research |
| 19304784 | Association between invasive ovarian cancer susceptibility and 11 best candidate SNPs from breast cancer genome-wide association study. | Song H et al. | 2009 | Human molecular genetics |
| 19519208 | Polygenic susceptibility to breast cancer: current state-of-the-art. | Ghoussaini M et al. | 2009 | Future oncology (London, England) |
| 19567422 | Risk of estrogen receptor-positive and -negative breast cancer and single-nucleotide polymorphism 2q35-rs13387042. | Milne RL et al. | 2009 | Journal of the National Cancer Institute |
| 19607694 | Low-risk susceptibility alleles in 40 human breast cancer cell lines. | Riaz M et al. | 2009 | BMC cancer |
| 19639606 | Correcting "winner's curse" in odds ratios from genomewide association findings for major complex human diseases. | Zhong H et al. | 2010 | Genetic epidemiology |
| 19789366 | Evaluation of 11 breast cancer susceptibility loci in African-American women. | Zheng W et al. | 2009 | Cancer epidemiology, biomarkers & prevention |
| 19843670 | Association of breast cancer susceptibility variants with risk of pancreatic cancer. | Couch FJ et al. | 2009 | Cancer epidemiology, biomarkers & prevention |
| 19931039 | Using lifetime risk estimates in personal genomic profiles: estimation of uncertainty. | Yang Q et al. | 2009 | American journal of human genetics |
| 20054709 | Birth weight, breast cancer susceptibility loci, and breast cancer risk. | Tamimi RM et al. | 2010 | Cancer causes & control |
| 20056641 | Multiple genetic variants in telomere pathway genes and breast cancer risk. | Shen J et al. | 2010 | Cancer epidemiology, biomarkers & prevention |
| 20145138 | Common genetic variants associated with breast cancer and mammographic density measures that predict disease. | Odefrey F et al. | 2010 | Cancer research |
| 20146796 | Familial relative risks for breast cancer by pathological subtype: a population-based cohort study. | Mavaddat N et al. | 2010 | Breast cancer research |
| 20237344 | Performance of common genetic variants in breast-cancer risk models. | Wacholder S et al. | 2010 | The New England journal of medicine |
| 20453838 | Genome-wide association study identifies five new breast cancer susceptibility loci. | Turnbull C et al. | 2010 | Nature genetics |
| 20484103 | Genetic and clinical predictors for breast cancer risk assessment and stratification among Chinese women. | Zheng W et al. | 2010 | Journal of the National Cancer Institute |
| 20505153 | A compendium of genome-wide associations for cancer: critical synopsis and reappraisal. | Ioannidis JP et al. | 2010 | Journal of the National Cancer Institute |
| 20530438 | Unique SNP in CD44 intron 1 and its role in breast cancer development. | Zhou J et al. | 2010 | Anticancer research |
| 20554749 | FGFR2 and other loci identified in genome-wide association studies are associated with breast cancer in African-American and younger women. | Barnholtz-Sloan JS et al. | 2010 | Carcinogenesis |
| 20585100 | Genome-wide association studies of cancer. | Stadler ZK et al. | 2010 | Journal of clinical oncology |
| 20605201 | Gene-environment interactions in 7610 women with breast cancer: prospective evidence from the Million Women Study. | Travis RC et al. | 2010 | Lancet (London, England) |
| 20699374 | Evaluation of breast cancer susceptibility loci in Chinese women. | Long J et al. | 2010 | Cancer epidemiology, biomarkers & prevention |
| 20718042 | Pooled versus individual genotyping in a breast cancer genome-wide association study. | Huang Y et al. | 2010 | Genetic epidemiology |
| 20809358 | Association between mitogen-activated protein kinase kinase kinase 1 rs889312 polymorphism and breast cancer risk: evidence from 59,977 subjects. | Lu PH et al. | 2011 | Breast cancer research and treatment |
| 20956782 | Assessment of clinical validity of a breast cancer risk model combining genetic and clinical information. | Mealiffe ME et al. | 2010 | Journal of the National Cancer Institute |
| 20957429 | Discriminatory accuracy and potential clinical utility of genomic profiling for breast cancer risk in BRCA-negative women. | Comen E et al. | 2011 | Breast cancer research and treatment |
| 21037853 | Breast cancer in the personal genomics era. | Ellsworth RE et al. | 2010 | Current genomics |
| 21049069 | Identification of Novel Susceptibility Genes for Breast Cancer - Genome-Wide Association Studies or Evaluation of Candidate Genes? | Meindl A et al. | 2009 | Breast care (Basel, Switzerland) |
| 21060860 | Common genetic variants and modification of penetrance of BRCA2-associated breast cancer. | Gaudet MM et al. | 2010 | PLoS genetics |
| 21102626 | Caution in generalizing known genetic risk markers for breast cancer across all ethnic/racial populations. | Chen F et al. | 2011 | European journal of human genetics |
| 21118973 | Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers: implications for risk prediction. | Antoniou AC et al. | 2010 | Cancer research |
| 21132113 | Direct-to-Consumer Genetic and Genomic Testing: Preparing Nurse Practitioners for Genomic Healthcare. | Loud JT et al. | 2010 | The journal for nurse practitioners |
| 21194473 | Assessing interactions between the associations of common genetic susceptibility variants, reproductive history and body mass index with breast cancer risk in the breast cancer association consortium: a combined case-control study. | Milne RL et al. | 2010 | Breast cancer research |
| 21197568 | Risk of genome-wide association study newly identified genetic variants for breast cancer in Chinese women of Heilongjiang Province. | Jiang Y et al. | 2011 | Breast cancer research and treatment |
| 21415360 | Common genetic variants associated with breast cancer in Korean women and differential susceptibility according to intrinsic subtype. | Han W et al. | 2011 | Cancer epidemiology, biomarkers & prevention |
| 21445572 | Genetic polymorphisms and breast cancer risk: evidence from meta-analyses, pooled analyses, and genome-wide association studies. | Peng S et al. | 2011 | Breast cancer research and treatment |
| 21468051 | Polygenic susceptibility to prostate and breast cancer: implications for personalised screening. | Pashayan N et al. | 2011 | British journal of cancer |
| 21475998 | Replication of five GWAS-identified loci and breast cancer risk among Hispanic and non-Hispanic white women living in the Southwestern United States. | Slattery ML et al. | 2011 | Breast cancer research and treatment |
| 21514219 | Genetic variants associated with breast-cancer risk: comprehensive research synopsis, meta-analysis, and epidemiological evidence. | Zhang B et al. | 2011 | The Lancet. Oncology |
| 21596841 | Low penetrance breast cancer susceptibility loci are associated with specific breast tumor subtypes: findings from the Breast Cancer Association Consortium. | Broeks A et al. | 2011 | Human molecular genetics |
| 21639959 | Annual conference on hereditary cancers 2009 szczecin, poland. 10-11 december 2009. Abstracts. | Jakubowska A et al. | 2011 | Hereditary cancer in clinical practice |
| 21655367 | In search of breast cancer culprits: suspecting the suspected and the unsuspected. | Dimri GP et al. | 2008 | Breast cancer |
| 21791674 | Interactions between genetic variants and breast cancer risk factors in the breast and prostate cancer cohort consortium. | Campa D et al. | 2011 | Journal of the National Cancer Institute |
| 21795501 | Replication of breast cancer GWAS susceptibility loci in the Women's Health Initiative African American SHARe Study. | Hutter CM et al. | 2011 | Cancer epidemiology, biomarkers & prevention |
| 21844186 | Common breast cancer susceptibility loci are associated with triple-negative breast cancer. | Stevens KN et al. | 2011 | Cancer research |
| 21852243 | Fine-mapping of breast cancer susceptibility loci characterizes genetic risk in African Americans. | Chen F et al. | 2011 | Human molecular genetics |
| 21869864 | An integrative genomics approach to biomarker discovery in breast cancer. | Hicks C et al. | 2011 | Cancer informatics |
| 21965274 | Breast cancer susceptibility polymorphisms and endometrial cancer risk: a Collaborative Endometrial Cancer Study. | Healey CS et al. | 2011 | Carcinogenesis |
| 22028405 | Estimating causal effects of genetic risk variants for breast cancer using marker data from bilateral and familial cases. | Dudbridge F et al. | 2012 | Cancer epidemiology, biomarkers & prevention |
| 22045194 | Combined effect of low-penetrant SNPs on breast cancer risk. | Harlid S et al. | 2012 | British journal of cancer |
| 22053997 | Common breast cancer susceptibility alleles are associated with tumour subtypes in BRCA1 and BRCA2 mutation carriers: results from the Consortium of Investigators of Modifiers of BRCA1/2. | Mulligan AM et al. | 2011 | Breast cancer research |
| 22087758 | Single nucleotide polymorphisms associated with risk for contralateral breast cancer in the Women's Environment, Cancer, and Radiation Epidemiology (WECARE) Study. | Teraoka SN et al. | 2011 | Breast cancer research |
| 22269215 | Breast cancer risk assessment with five independent genetic variants and two risk factors in Chinese women. | Dai J et al. | 2012 | Breast cancer research |
| 22314178 | Breast cancer risk prediction and individualised screening based on common genetic variation and breast density measurement. | Darabi H et al. | 2012 | Breast cancer research |
| 22357627 | Evaluation of 19 susceptibility loci of breast cancer in women of African ancestry. | Huo D et al. | 2012 | Carcinogenesis |
| 22433456 | Reproductive aging-associated common genetic variants and the risk of breast cancer. | He C et al. | 2012 | Breast cancer research |
| 22452962 | A genome-wide association study identifies a breast cancer risk variant in ERBB4 at 2q34: results from the Seoul Breast Cancer Study. | Kim HC et al. | 2012 | Breast cancer research |
| 22454379 | Common breast cancer susceptibility variants in LSP1 and RAD51L1 are associated with mammographic density measures that predict breast cancer risk. | Vachon CM et al. | 2012 | Cancer epidemiology, biomarkers & prevention |
| 22468730 | Multilocus analysis of candidate genes involved in neurogenic inflammation in pediatric asthma and related phenotypes: a case-control study. | Szczepankiewicz A et al. | 2012 | The Journal of asthma |
| 22532573 | The role of genetic breast cancer susceptibility variants as prognostic factors. | Fasching PA et al. | 2012 | Human molecular genetics |
| 22726230 | Interactive effect of genetic susceptibility with height, body mass index, and hormone replacement therapy on the risk of breast cancer. | Harlid S et al. | 2012 | BMC women's health |
| 22747683 | Genetic variants associated with breast size also influence breast cancer risk. | Eriksson N et al. | 2012 | BMC medical genetics |
| 22867275 | Genetic predisposition, parity, age at first childbirth and risk for breast cancer. | Butt S et al. | 2012 | BMC research notes |
| 22910930 | Genome-Wide Association Studies (GWAS) breast cancer susceptibility loci in Arabs: susceptibility and prognostic implications in Tunisians. | Shan J et al. | 2012 | Breast cancer research and treatment |
| 22972951 | Prediction of breast cancer risk by genetic risk factors, overall and by hormone receptor status. | Hüsing A et al. | 2012 | Journal of medical genetics |
| 23136140 | Genetic susceptibility loci for subtypes of breast cancer in an African American population. | Palmer JR et al. | 2013 | Cancer epidemiology, biomarkers & prevention |
| 23221726 | Gene-environment interactions for breast cancer risk among Chinese women: a report from the Shanghai Breast Cancer Genetics Study. | Li H et al. | 2013 | American journal of epidemiology |
| 23225170 | Genetic variants in FGFR2 and MAP3K1 are associated with the risk of familial and early-onset breast cancer in a South-American population. | Jara L et al. | 2013 | Breast cancer research and treatment |
| 23291271 | Association between functional polymorphisms in genes involved in the MAPK signaling pathways and cutaneous melanoma risk. | Liu H et al. | 2013 | Carcinogenesis |
| 23318652 | Hereditary breast cancer in the Han Chinese population. | Cao W et al. | 2013 | Journal of epidemiology |
| 23354978 | Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation. | Rinella ES et al. | 2013 | Human genetics |
| 23474973 | Incremental impact of breast cancer SNP panel on risk classification in a screening population of white and African American women. | McCarthy AM et al. | 2013 | Breast cancer research and treatment |
| 23486537 | Comparison of genetic variation of breast cancer susceptibility genes in Chinese and German populations. | Barzan D et al. | 2013 | European journal of human genetics |
| 23535825 | Common genetic determinants of breast-cancer risk in East Asian women: a collaborative study of 23 637 breast cancer cases and 25 579 controls. | Zheng W et al. | 2013 | Human molecular genetics |
| 23544014 | Evidence of gene-environment interactions between common breast cancer susceptibility loci and established environmental risk factors. | Nickels S et al. | 2013 | PLoS genetics |
| 23577780 | Associations between single-nucleotide polymorphisms and epidural ropivacaine consumption in patients undergoing breast cancer surgery. | Liu J et al. | 2013 | Genetic testing and molecular biomarkers |
| 23593120 | Evaluating genome-wide association study-identified breast cancer risk variants in African-American women. | Long J et al. | 2013 | PloS one |
| 23614025 | A novel multiplex tetra-primer ARMS-PCR for the simultaneous genotyping of six single nucleotide polymorphisms associated with female cancers. | Zhang C et al. | 2013 | PloS one |
| 23635555 | The relationship between eight GWAS-identified single-nucleotide polymorphisms and primary breast cancer outcomes. | Bayraktar S et al. | 2013 | The oncologist |
| 23717390 | Identification of a breast cancer susceptibility locus at 4q31.22 using a genome-wide association study paradigm. | Sapkota Y et al. | 2013 | PloS one |
| 23893088 | The associations between a polygenic score, reproductive and menstrual risk factors and breast cancer risk. | Warren Andersen S et al. | 2013 | Breast cancer research and treatment |
| 24025454 | Hereditary breast cancer: ever more pieces to the polygenic puzzle. | Bogdanova N et al. | 2013 | Hereditary cancer in clinical practice |
| 24171766 | Common low-penetrance risk variants associated with breast cancer in Polish women. | Ledwoń JK et al. | 2013 | BMC cancer |
| 24218030 | Replication of breast cancer susceptibility loci in whites and African Americans using a Bayesian approach. | O'Brien KM et al. | 2014 | American journal of epidemiology |
| 24266904 | Breast cancer prediction using genome wide single nucleotide polymorphism data. | Hajiloo M et al. | 2013 | BMC bioinformatics |
| 24340245 | Adiposity, inflammation, genetic variants and risk of post-menopausal breast cancer findings from a prospective-specimen-collection, retrospective-blinded-evaluation (PRoBE) design approach. | Yan XS et al. | 2013 | SpringerPlus |
| 24359602 | Common breast cancer risk variants in the post-COGS era: a comprehensive review. | Maxwell KN et al. | 2013 | Breast cancer research |
| 24373701 | Breast cancer susceptibility loci in association with age at menarche, age at natural menopause and the reproductive lifespan. | Warren Andersen S et al. | 2014 | Cancer epidemiology |
| 24510657 | Evaluating 17 breast cancer susceptibility loci in the Nashville breast health study. | Han MR et al. | 2015 | Breast cancer (Tokyo, Japan) |
| 24743323 | Genetic predisposition to in situ and invasive lobular carcinoma of the breast. | Sawyer E et al. | 2014 | PLoS genetics |
| 24771903 | Breast Cancer Risk - From Genetics to Molecular Understanding of Pathogenesis. | Fasching PA et al. | 2013 | Geburtshilfe und Frauenheilkunde |
| 24792587 | Reproductive windows, genetic loci, and breast cancer risk. | Warren Andersen S et al. | 2014 | Annals of epidemiology |
| 24832084 | Cross-cancer pleiotropic analysis of endometrial cancer: PAGE and E2C2 consortia. | Setiawan VW et al. | 2014 | Carcinogenesis |
| 24875630 | Validation of six genetic determinants of susceptibility to estrogen-induced mammary cancer in the rat and assessment of their relevance to breast cancer risk in humans. | Colletti JA 2nd et al. | 2014 | G3 (Bethesda, Md.) |
| 24895409 | Post-GWAS gene-environment interplay in breast cancer: results from the Breast and Prostate Cancer Cohort Consortium and a meta-analysis on 79,000 women. | Barrdahl M et al. | 2014 | Human molecular genetics |
| 24941967 | Breast cancer risk assessment using genetic variants and risk factors in a Singapore Chinese population. | Lee CP et al. | 2014 | Breast cancer research |
| 25027274 | Testing calibration of risk models at extremes of disease risk. | Song M et al. | 2015 | Biostatistics (Oxford, England) |
| 25057183 | A robust association test for detecting genetic variants with heterogeneous effects. | Yu K et al. | 2015 | Biostatistics (Oxford, England) |
| 25253900 | Breast Cancer Risk - Genes, Environment and Clinics. | Fasching PA et al. | 2011 | Geburtshilfe und Frauenheilkunde |
| 25255808 | Additive interactions between susceptibility single-nucleotide polymorphisms identified in genome-wide association studies and breast cancer risk factors in the Breast and Prostate Cancer Cohort Consortium. | Joshi AD et al. | 2014 | American journal of epidemiology |
| 25390939 | MicroRNA related polymorphisms and breast cancer risk. | Khan S et al. | 2014 | PloS one |
| 25529635 | Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1. | Glubb DM et al. | 2015 | American journal of human genetics |
| 25567532 | The use of the Gail model, body mass index and SNPs to predict breast cancer among women with abnormal (BI-RADS 4) mammograms. | McCarthy AM et al. | 2015 | Breast cancer research |
| 25611573 | Association of breast cancer risk loci with breast cancer survival. | Barrdahl M et al. | 2015 | International journal of cancer |
| 25629224 | MAPK genes interact with diet and lifestyle factors to alter risk of breast cancer: the Breast Cancer Health Disparities Study. | Slattery ML et al. | 2015 | Nutrition and cancer |
| 25881232 | Associations between breast density and a panel of single nucleotide polymorphisms linked to breast cancer risk: a cohort study with digital mammography. | Keller BM et al. | 2015 | BMC cancer |
| 26070784 | Genetic risk variants associated with in situ breast cancer. | Campa D et al. | 2015 | Breast cancer research |
| 26510858 | Patients with a High Polygenic Risk of Breast Cancer do not have An Increased Risk of Radiotherapy Toxicity. | Dorling L et al. | 2016 | Clinical cancer research |
| 26770289 | Association of polymorphisms with a family history of cancer and the presence of germline mutations in the BRCA1/BRCA2 genes. | Fernandes GC et al. | 2016 | Hereditary cancer in clinical practice |
| 26803517 | Relationship between five GWAS-identified single nucleotide polymorphisms and female breast cancer in the Chinese Han population. | He Y et al. | 2016 | Tumour biology |
| 26884359 | Genetic predisposition to ductal carcinoma in situ of the breast. | Petridis C et al. | 2016 | Breast cancer research |
| 27079684 | Genome-wide association studies and epigenome-wide association studies go together in cancer control. | Verma M et al. | 2016 | Future oncology (London, England) |
| 27392074 | The Relationship between Common Genetic Markers of Breast Cancer Risk and Chemotherapy-Induced Toxicity: A Case-Control Study. | Dorling L et al. | 2016 | PloS one |
| 27424552 | Genomics era and complex disorders: Implications of GWAS with special reference to coronary artery disease, type 2 diabetes mellitus, and cancers. | Pranavchand R et al. | 2016 | Journal of postgraduate medicine |
| 27572905 | Genetic variants in FGFR2 and TNRC9 genes are associated with breast cancer risk in Pakistani women. | Mazhar A et al. | 2016 | Molecular medicine reports |
| 27814745 | Deep targeted sequencing of 12 breast cancer susceptibility regions in 4611 women across four different ethnicities. | Lindström S et al. | 2016 | Breast cancer research |
| 28098224 | Association of Genome-Wide Association Study (GWAS) Identified SNPs and Risk of Breast Cancer in an Indian Population. | Nagrani R et al. | 2017 | Scientific reports |
| 28178648 | Polymorphisms of ESR1, UGT1A1, HCN1, MAP3K1 and CYP2B6 are associated with the prognosis of hormone receptor-positive early breast cancer. | Kuo SH et al. | 2017 | Oncotarget |
| 28205043 | A polygenic risk score for breast cancer risk in a Taiwanese population. | Hsieh YC et al. | 2017 | Breast cancer research and treatment |
| 28757652 | Genetic Breast Cancer Susceptibility Variants and Prognosis in the Prospectively Randomized SUCCESS A Study. | Hein A et al. | 2017 | Geburtshilfe und Frauenheilkunde |
| 28985766 | Mutations in BRCA1, BRCA2 and other breast and ovarian cancer susceptibility genes in Central and South American populations. | Jara L et al. | 2017 | Biological research |
| 29372690 | Association of single nucleotide polymorphisms in FGF-RAS/MAP signalling cascade with breast cancer susceptibility. | Dankova Z et al. | 2017 | General physiology and biophysics |
| 29382703 | Common Genetic Variation and Breast Cancer Risk-Past, Present, and Future. | Lilyquist J et al. | 2018 | Cancer epidemiology, biomarkers & prevention |
| 29433565 | Genetic determinants of sporadic breast cancer in Sri Lankan women. | Sirisena ND et al. | 2018 | BMC cancer |
| 30078824 | Two polymorphisms, rs2046210 and rs3803662, are associated with breast cancer risk in a Vietnamese case-control cohort. | Thanh NTN et al. | 2018 | Genes & genetic systems |
| 30285756 | Subtype-specific associations between breast cancer risk polymorphisms and the survival of early-stage breast cancer. | Fu F et al. | 2018 | Journal of translational medicine |
| 30781715 | Genetic Epidemiology of Breast Cancer in Latin America. | Zavala VA et al. | 2019 | Genes |
| 31002855 | Predictive accuracy of the breast cancer genetic risk model based on eight common genetic variants: The BACkSIDE study. | Danková Z et al. | 2019 | Journal of biotechnology |
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Help
The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.
Genome context:
Select flank length:
Genomic regions, transcripts, and products
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Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.