rs8106922 RefSNP Report - dbSNP

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.

rs8106922

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:44898409 (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: A>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.345423 (91430/264690, TOPMED)
G=0.403116 (90032/223340, ALFA)
G=0.360083 (50184/139368, GnomAD) (+ 21 more)
G=0.30767 (24211/78692, PAGE_STUDY)
G=0.23891 (6742/28220, 14KJPN)
G=0.24379 (4086/16760, 8.3KJPN)
G=0.3017 (1932/6404, 1000G_30x)
G=0.2973 (1489/5008, 1000G)
G=0.4245 (1901/4478, Estonian)
G=0.4048 (1560/3854, ALSPAC)
G=0.4132 (1532/3708, TWINSUK)
G=0.2139 (625/2922, KOREAN)
G=0.3023 (630/2084, HGDP_Stanford)
G=0.2735 (517/1890, HapMap)
G=0.2134 (391/1832, Korea1K)
G=0.455 (454/998, GoNL)
G=0.179 (142/792, PRJEB37584)
G=0.392 (235/600, NorthernSweden)
A=0.396 (107/270, SGDP_PRJ)
G=0.310 (67/216, Qatari)
G=0.205 (43/210, Vietnamese)
A=0.43 (36/84, Ancient Sardinia)
G=0.28 (11/40, GENOME_DK)
A=0.41 (13/32, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TOMM40 : Intron Variant
Publications: 24 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	228376	A=0.597909	G=0.402091	0.358873	0.163056	0.478071	2
European	Sub	197526	A=0.587533	G=0.412467	0.345139	0.170074	0.484787	0
African	Sub	8722	A=0.7654	G=0.2346	0.588856	0.058014	0.35313	1
African Others	Sub	320	A=0.819	G=0.181	0.68125	0.04375	0.275	1
African American	Sub	8402	A=0.7634	G=0.2366	0.585337	0.058557	0.356106	1
Asian	Sub	736	A=0.746	G=0.254	0.548913	0.057065	0.394022	0
East Asian	Sub	590	A=0.751	G=0.249	0.549153	0.047458	0.40339	1
Other Asian	Sub	146	A=0.726	G=0.274	0.547945	0.09589	0.356164	0
Latin American 1	Sub	844	A=0.596	G=0.404	0.35782	0.165877	0.476303	0
Latin American 2	Sub	6896	A=0.6027	G=0.3973	0.359629	0.154292	0.486079	0
South Asian	Sub	5040	A=0.6399	G=0.3601	0.409921	0.130159	0.459921	0
Other	Sub	8612	A=0.6254	G=0.3746	0.394333	0.143521	0.462146	0

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	A=0.654577	G=0.345423
Allele Frequency Aggregator	Total	Global	223340	A=0.596884	G=0.403116
Allele Frequency Aggregator	European	Sub	194432	A=0.587270	G=0.412730
Allele Frequency Aggregator	Other	Sub	7812	A=0.6240	G=0.3760
Allele Frequency Aggregator	African	Sub	7580	A=0.7673	G=0.2327
Allele Frequency Aggregator	Latin American 2	Sub	6896	A=0.6027	G=0.3973
Allele Frequency Aggregator	South Asian	Sub	5040	A=0.6399	G=0.3601
Allele Frequency Aggregator	Latin American 1	Sub	844	A=0.596	G=0.404
Allele Frequency Aggregator	Asian	Sub	736	A=0.746	G=0.254
gnomAD - Genomes	Global	Study-wide	139368	A=0.639917	G=0.360083
gnomAD - Genomes	European	Sub	75558	A=0.57660	G=0.42340
gnomAD - Genomes	African	Sub	41652	A=0.75413	G=0.24587
gnomAD - Genomes	American	Sub	13584	A=0.62206	G=0.37794
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	A=0.5877	G=0.4123
gnomAD - Genomes	East Asian	Sub	3112	A=0.7818	G=0.2182
gnomAD - Genomes	Other	Sub	2144	A=0.6404	G=0.3596
The PAGE Study	Global	Study-wide	78692	A=0.69233	G=0.30767
The PAGE Study	AfricanAmerican	Sub	32514	A=0.75128	G=0.24872
The PAGE Study	Mexican	Sub	10806	A=0.58939	G=0.41061
The PAGE Study	Asian	Sub	8318	A=0.7465	G=0.2535
The PAGE Study	PuertoRican	Sub	7918	A=0.6387	G=0.3613
The PAGE Study	NativeHawaiian	Sub	4532	A=0.7222	G=0.2778
The PAGE Study	Cuban	Sub	4230	A=0.5868	G=0.4132
The PAGE Study	Dominican	Sub	3828	A=0.6792	G=0.3208
The PAGE Study	CentralAmerican	Sub	2450	A=0.6241	G=0.3759
The PAGE Study	SouthAmerican	Sub	1982	A=0.5969	G=0.4031
The PAGE Study	NativeAmerican	Sub	1260	A=0.6452	G=0.3548
The PAGE Study	SouthAsian	Sub	854	A=0.631	G=0.369
14KJPN	JAPANESE	Study-wide	28220	A=0.76109	G=0.23891
8.3KJPN	JAPANESE	Study-wide	16760	A=0.75621	G=0.24379
1000Genomes_30x	Global	Study-wide	6404	A=0.6983	G=0.3017
1000Genomes_30x	African	Sub	1786	A=0.7934	G=0.2066
1000Genomes_30x	Europe	Sub	1266	A=0.6019	G=0.3981
1000Genomes_30x	South Asian	Sub	1202	A=0.6539	G=0.3461
1000Genomes_30x	East Asian	Sub	1170	A=0.7786	G=0.2214
1000Genomes_30x	American	Sub	980	A=0.608	G=0.392
1000Genomes	Global	Study-wide	5008	A=0.7027	G=0.2973
1000Genomes	African	Sub	1322	A=0.8101	G=0.1899
1000Genomes	East Asian	Sub	1008	A=0.7827	G=0.2173
1000Genomes	Europe	Sub	1006	A=0.5915	G=0.4085
1000Genomes	South Asian	Sub	978	A=0.653	G=0.347
1000Genomes	American	Sub	694	A=0.612	G=0.388
Genetic variation in the Estonian population	Estonian	Study-wide	4478	A=0.5755	G=0.4245
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.5952	G=0.4048
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.5868	G=0.4132
KOREAN population from KRGDB	KOREAN	Study-wide	2922	A=0.7861	G=0.2139
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	A=0.6977	G=0.3023
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	A=0.826	G=0.174
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	A=0.650	G=0.350
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	A=0.637	G=0.363
HGDP-CEPH-db Supplement 1	Europe	Sub	320	A=0.616	G=0.384
HGDP-CEPH-db Supplement 1	Africa	Sub	242	A=0.802	G=0.198
HGDP-CEPH-db Supplement 1	America	Sub	216	A=0.537	G=0.463
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	A=0.93	G=0.07
HapMap	Global	Study-wide	1890	A=0.7265	G=0.2735
HapMap	American	Sub	768	A=0.676	G=0.324
HapMap	African	Sub	692	A=0.799	G=0.201
HapMap	Asian	Sub	254	A=0.791	G=0.209
HapMap	Europe	Sub	176	A=0.568	G=0.432
Korean Genome Project	KOREAN	Study-wide	1832	A=0.7866	G=0.2134
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.545	G=0.455
CNV burdens in cranial meningiomas	Global	Study-wide	792	A=0.821	G=0.179
CNV burdens in cranial meningiomas	CRM	Sub	792	A=0.821	G=0.179
Northern Sweden	ACPOP	Study-wide	600	A=0.608	G=0.392
SGDP_PRJ	Global	Study-wide	270	A=0.396	G=0.604
Qatari	Global	Study-wide	216	A=0.690	G=0.310
A Vietnamese Genetic Variation Database	Global	Study-wide	210	A=0.795	G=0.205
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	84	A=0.43	G=0.57
The Danish reference pan genome	Danish	Study-wide	40	A=0.72	G=0.28
Siberian	Global	Study-wide	32	A=0.41	G=0.59

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 19	NC_000019.10:g.44898409A>G
GRCh37.p13 chr 19	NC_000019.9:g.45401666A>G
TOMM40 RefSeqGene	NG_042854.1:g.12190A>G

Gene: TOMM40, translocase of outer mitochondrial membrane 40 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TOMM40 transcript variant 2	NM_001128916.2:c.644-2321… NM_001128916.2:c.644-2321A>G	N/A	Intron Variant
TOMM40 transcript variant 1	NM_001128917.2:c.644-2321… NM_001128917.2:c.644-2321A>G	N/A	Intron Variant
TOMM40 transcript variant 3	NM_006114.3:c.644-2321A>G	N/A	Intron Variant
TOMM40 transcript variant X1	XM_005258411.5:c.644-2321… XM_005258411.5:c.644-2321A>G	N/A	Intron Variant
TOMM40 transcript variant X2	XM_047438057.1:c.644-2321… XM_047438057.1:c.644-2321A>G	N/A	Intron Variant

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

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	A=	G
GRCh38.p14 chr 19	NC_000019.10:g.44898409=	NC_000019.10:g.44898409A>G
GRCh37.p13 chr 19	NC_000019.9:g.45401666=	NC_000019.9:g.45401666A>G
TOMM40 RefSeqGene	NG_042854.1:g.12190=	NG_042854.1:g.12190A>G
TOMM40 transcript variant 2	NM_001128916.1:c.644-2321=	NM_001128916.1:c.644-2321A>G
TOMM40 transcript variant 2	NM_001128916.2:c.644-2321=	NM_001128916.2:c.644-2321A>G
TOMM40 transcript variant 1	NM_001128917.1:c.644-2321=	NM_001128917.1:c.644-2321A>G
TOMM40 transcript variant 1	NM_001128917.2:c.644-2321=	NM_001128917.2:c.644-2321A>G
TOMM40 transcript variant 3	NM_006114.2:c.644-2321=	NM_006114.2:c.644-2321A>G
TOMM40 transcript variant 3	NM_006114.3:c.644-2321=	NM_006114.3:c.644-2321A>G
TOMM40 transcript variant X1	XM_005258411.1:c.644-2321=	XM_005258411.1:c.644-2321A>G
TOMM40 transcript variant X1	XM_005258411.5:c.644-2321=	XM_005258411.5:c.644-2321A>G
TOMM40 transcript variant X2	XM_047438057.1:c.644-2321=	XM_047438057.1:c.644-2321A>G

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#.

128 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss12461967	Jul 11, 2003 (116)
2	ILLUMINA	ss66820476	Nov 30, 2006 (127)
3	ILLUMINA	ss67872614	Nov 30, 2006 (127)
4	ILLUMINA	ss68017031	Nov 30, 2006 (127)
5	ILLUMINA	ss70970936	May 24, 2008 (130)
6	ILLUMINA	ss71581660	May 17, 2007 (127)
7	ILLUMINA	ss75861630	Dec 07, 2007 (129)
8	ILLUMINA	ss79281730	Dec 14, 2007 (130)
9	KRIBB_YJKIM	ss84787790	Dec 14, 2007 (130)
10	HUMANGENOME_JCVI	ss96308967	Feb 04, 2009 (130)
11	BGI	ss103441187	Dec 01, 2009 (131)
12	1000GENOMES	ss111420624	Jan 25, 2009 (130)
13	1000GENOMES	ss115184570	Jan 25, 2009 (130)
14	ILLUMINA-UK	ss117717014	Feb 14, 2009 (130)
15	ILLUMINA	ss122904318	Dec 01, 2009 (131)
16	ENSEMBL	ss139339558	Dec 01, 2009 (131)
17	ILLUMINA	ss154469610	Dec 01, 2009 (131)
18	ILLUMINA	ss159644122	Dec 01, 2009 (131)
19	ILLUMINA	ss160950646	Dec 01, 2009 (131)
20	ILLUMINA	ss172399597	Jul 04, 2010 (132)
21	ILLUMINA	ss174721721	Jul 04, 2010 (132)
22	1000GENOMES	ss228156522	Jul 14, 2010 (132)
23	1000GENOMES	ss237689569	Jul 15, 2010 (132)
24	1000GENOMES	ss243892413	Jul 15, 2010 (132)
25	ILLUMINA	ss244312563	Jul 04, 2010 (132)
26	GMI	ss283224121	May 04, 2012 (137)
27	PJP	ss292183885	May 09, 2011 (134)
28	ILLUMINA	ss410954805	Sep 17, 2011 (135)
29	ILLUMINA	ss481786916	May 04, 2012 (137)
30	ILLUMINA	ss481819237	May 04, 2012 (137)
31	ILLUMINA	ss482780583	Sep 08, 2015 (146)
32	ILLUMINA	ss485688145	May 04, 2012 (137)
33	ILLUMINA	ss537556680	Sep 08, 2015 (146)
34	TISHKOFF	ss566007532	Apr 25, 2013 (138)
35	SSMP	ss661874549	Apr 25, 2013 (138)
36	ILLUMINA	ss778627011	Aug 21, 2014 (142)
37	ILLUMINA	ss783289657	Aug 21, 2014 (142)
38	ILLUMINA	ss784242357	Aug 21, 2014 (142)
39	ILLUMINA	ss825612248	Apr 01, 2015 (144)
40	ILLUMINA	ss832550887	Apr 01, 2015 (144)
41	ILLUMINA	ss833154960	Aug 21, 2014 (142)
42	ILLUMINA	ss833745788	Aug 21, 2014 (142)
43	ILLUMINA	ss834084566	Aug 21, 2014 (142)
44	EVA-GONL	ss994339103	Aug 21, 2014 (142)
45	JMKIDD_LAB	ss1081930413	Aug 21, 2014 (142)
46	1000GENOMES	ss1363325849	Aug 21, 2014 (142)
47	DDI	ss1428413912	Apr 01, 2015 (144)
48	EVA_GENOME_DK	ss1578653607	Apr 01, 2015 (144)
49	EVA_UK10K_ALSPAC	ss1638043494	Apr 01, 2015 (144)
50	EVA_UK10K_TWINSUK	ss1681037527	Apr 01, 2015 (144)
51	EVA_DECODE	ss1698394049	Apr 01, 2015 (144)
52	EVA_SVP	ss1713664893	Apr 01, 2015 (144)
53	ILLUMINA	ss1752288212	Sep 08, 2015 (146)
54	HAMMER_LAB	ss1809325939	Sep 08, 2015 (146)
55	WEILL_CORNELL_DGM	ss1937835727	Feb 12, 2016 (147)
56	ILLUMINA	ss1946537652	Feb 12, 2016 (147)
57	ILLUMINA	ss1959869630	Feb 12, 2016 (147)
58	GENOMED	ss1968650720	Jul 19, 2016 (147)
59	JJLAB	ss2029695279	Sep 14, 2016 (149)
60	ILLUMINA	ss2095085204	Dec 20, 2016 (150)
61	USC_VALOUEV	ss2158238034	Dec 20, 2016 (150)
62	HUMAN_LONGEVITY	ss2226011558	Dec 20, 2016 (150)
63	SYSTEMSBIOZJU	ss2629344288	Nov 08, 2017 (151)
64	ILLUMINA	ss2633544185	Nov 08, 2017 (151)
65	ILLUMINA	ss2635083900	Nov 08, 2017 (151)
66	GRF	ss2702851324	Nov 08, 2017 (151)
67	GNOMAD	ss2963329153	Nov 08, 2017 (151)
68	SWEGEN	ss3017540576	Nov 08, 2017 (151)
69	ILLUMINA	ss3021911477	Nov 08, 2017 (151)
70	BIOINF_KMB_FNS_UNIBA	ss3028677763	Nov 08, 2017 (151)
71	CSHL	ss3352320654	Nov 08, 2017 (151)
72	ILLUMINA	ss3625742693	Oct 12, 2018 (152)
73	ILLUMINA	ss3627941588	Oct 12, 2018 (152)
74	ILLUMINA	ss3631515208	Oct 12, 2018 (152)
75	ILLUMINA	ss3633892008	Oct 12, 2018 (152)
76	ILLUMINA	ss3634738095	Oct 12, 2018 (152)
77	ILLUMINA	ss3635578755	Oct 12, 2018 (152)
78	ILLUMINA	ss3636425116	Oct 12, 2018 (152)
79	ILLUMINA	ss3637330505	Oct 12, 2018 (152)
80	ILLUMINA	ss3638229860	Oct 12, 2018 (152)
81	ILLUMINA	ss3639120527	Oct 12, 2018 (152)
82	ILLUMINA	ss3639570932	Oct 12, 2018 (152)
83	ILLUMINA	ss3640445403	Oct 12, 2018 (152)
84	ILLUMINA	ss3643202410	Oct 12, 2018 (152)
85	ILLUMINA	ss3644726167	Oct 12, 2018 (152)
86	URBANLAB	ss3650925093	Oct 12, 2018 (152)
87	ILLUMINA	ss3652337566	Oct 12, 2018 (152)
88	EGCUT_WGS	ss3684286476	Jul 13, 2019 (153)
89	EVA_DECODE	ss3702845595	Jul 13, 2019 (153)
90	ILLUMINA	ss3725733505	Jul 13, 2019 (153)
91	ACPOP	ss3743072535	Jul 13, 2019 (153)
92	ILLUMINA	ss3744167379	Jul 13, 2019 (153)
93	ILLUMINA	ss3745038104	Jul 13, 2019 (153)
94	EVA	ss3756111684	Jul 13, 2019 (153)
95	PAGE_CC	ss3772016975	Jul 13, 2019 (153)
96	ILLUMINA	ss3772535188	Jul 13, 2019 (153)
97	KHV_HUMAN_GENOMES	ss3821359812	Jul 13, 2019 (153)
98	EVA	ss3835481162	Apr 27, 2020 (154)
99	EVA	ss3841363348	Apr 27, 2020 (154)
100	EVA	ss3846869399	Apr 27, 2020 (154)
101	HGDP	ss3847600366	Apr 27, 2020 (154)
102	SGDP_PRJ	ss3888305191	Apr 27, 2020 (154)
103	KRGDB	ss3938432461	Apr 27, 2020 (154)
104	KOGIC	ss3981436233	Apr 27, 2020 (154)
105	EVA	ss3984742813	Apr 26, 2021 (155)
106	EVA	ss3985856227	Apr 26, 2021 (155)
107	EVA	ss4017826828	Apr 26, 2021 (155)
108	TOPMED	ss5076162848	Apr 26, 2021 (155)
109	TOMMO_GENOMICS	ss5227950178	Apr 26, 2021 (155)
110	EVA	ss5237597844	Apr 26, 2021 (155)
111	1000G_HIGH_COVERAGE	ss5307395322	Oct 13, 2022 (156)
112	EVA	ss5315977222	Oct 13, 2022 (156)
113	EVA	ss5435086549	Oct 13, 2022 (156)
114	HUGCELL_USP	ss5499891265	Oct 13, 2022 (156)
115	EVA	ss5512112904	Oct 13, 2022 (156)
116	1000G_HIGH_COVERAGE	ss5613190712	Oct 13, 2022 (156)
117	SANFORD_IMAGENETICS	ss5624429759	Oct 13, 2022 (156)
118	SANFORD_IMAGENETICS	ss5662475444	Oct 13, 2022 (156)
119	TOMMO_GENOMICS	ss5786644220	Oct 13, 2022 (156)
120	EVA	ss5800009694	Oct 13, 2022 (156)
121	YY_MCH	ss5817637018	Oct 13, 2022 (156)
122	EVA	ss5840606672	Oct 13, 2022 (156)
123	EVA	ss5847497722	Oct 13, 2022 (156)
124	EVA	ss5847846229	Oct 13, 2022 (156)
125	EVA	ss5852303993	Oct 13, 2022 (156)
126	EVA	ss5928255949	Oct 13, 2022 (156)
127	EVA	ss5953885235	Oct 13, 2022 (156)
128	EVA	ss5979547872	Oct 13, 2022 (156)
129	1000Genomes	NC_000019.9 - 45401666	Oct 12, 2018 (152)
130	1000Genomes_30x	NC_000019.10 - 44898409	Oct 13, 2022 (156)
131	The Avon Longitudinal Study of Parents and Children	NC_000019.9 - 45401666	Oct 12, 2018 (152)
132	Genetic variation in the Estonian population	NC_000019.9 - 45401666	Oct 12, 2018 (152)
133	The Danish reference pan genome	NC_000019.9 - 45401666	Apr 27, 2020 (154)
134	gnomAD - Genomes	NC_000019.10 - 44898409	Apr 26, 2021 (155)
135	Genome of the Netherlands Release 5	NC_000019.9 - 45401666	Apr 27, 2020 (154)
136	HGDP-CEPH-db Supplement 1	NC_000019.8 - 50093506	Apr 27, 2020 (154)
137	HapMap	NC_000019.10 - 44898409	Apr 27, 2020 (154)
138	KOREAN population from KRGDB	NC_000019.9 - 45401666	Apr 27, 2020 (154)
139	Korean Genome Project	NC_000019.10 - 44898409	Apr 27, 2020 (154)
140	Northern Sweden	NC_000019.9 - 45401666	Jul 13, 2019 (153)
141	The PAGE Study	NC_000019.10 - 44898409	Jul 13, 2019 (153)
142	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000019.9 - 45401666	Apr 26, 2021 (155)
143	CNV burdens in cranial meningiomas	NC_000019.9 - 45401666	Apr 26, 2021 (155)
144	Qatari	NC_000019.9 - 45401666	Apr 27, 2020 (154)
145	SGDP_PRJ	NC_000019.9 - 45401666	Apr 27, 2020 (154)
146	Siberian	NC_000019.9 - 45401666	Apr 27, 2020 (154)
147	8.3KJPN	NC_000019.9 - 45401666	Apr 26, 2021 (155)
148	14KJPN	NC_000019.10 - 44898409	Oct 13, 2022 (156)
149	TopMed	NC_000019.10 - 44898409	Apr 26, 2021 (155)
150	UK 10K study - Twins	NC_000019.9 - 45401666	Oct 12, 2018 (152)
151	A Vietnamese Genetic Variation Database	NC_000019.9 - 45401666	Jul 13, 2019 (153)
152	ALFA	NC_000019.10 - 44898409	Apr 26, 2021 (155)

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)
rs57826936	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
278258, ss111420624, ss115184570, ss117717014, ss160950646, ss244312563, ss283224121, ss292183885, ss410954805, ss481786916, ss825612248, ss1698394049, ss1713664893, ss2635083900, ss3639120527, ss3639570932, ss3643202410, ss3847600366	NC_000019.8:50093505:A:G	NC_000019.10:44898408:A:G	(self)
76738368, 42493672, 30024724, 4835539, 18930506, 45609855, 16357400, 1082154, 292373, 19877649, 40322171, 10754388, 85919485, 42493672, 9383688, ss228156522, ss237689569, ss243892413, ss481819237, ss482780583, ss485688145, ss537556680, ss566007532, ss661874549, ss778627011, ss783289657, ss784242357, ss832550887, ss833154960, ss833745788, ss834084566, ss994339103, ss1081930413, ss1363325849, ss1428413912, ss1578653607, ss1638043494, ss1681037527, ss1752288212, ss1809325939, ss1937835727, ss1946537652, ss1959869630, ss1968650720, ss2029695279, ss2095085204, ss2158238034, ss2629344288, ss2633544185, ss2702851324, ss2963329153, ss3017540576, ss3021911477, ss3352320654, ss3625742693, ss3627941588, ss3631515208, ss3633892008, ss3634738095, ss3635578755, ss3636425116, ss3637330505, ss3638229860, ss3640445403, ss3644726167, ss3652337566, ss3684286476, ss3743072535, ss3744167379, ss3745038104, ss3756111684, ss3772535188, ss3835481162, ss3841363348, ss3888305191, ss3938432461, ss3984742813, ss3985856227, ss4017826828, ss5227950178, ss5237597844, ss5315977222, ss5435086549, ss5512112904, ss5624429759, ss5662475444, ss5800009694, ss5840606672, ss5847497722, ss5847846229, ss5953885235, ss5979547872	NC_000019.9:45401665:A:G	NC_000019.10:44898408:A:G	(self)
100716647, 541190517, 1701703, 37814234, 1238444, 120481324, 291708512, 55920655, ss2226011558, ss3028677763, ss3650925093, ss3702845595, ss3725733505, ss3772016975, ss3821359812, ss3846869399, ss3981436233, ss5076162848, ss5307395322, ss5499891265, ss5613190712, ss5786644220, ss5817637018, ss5852303993, ss5928255949	NC_000019.10:44898408:A:G	NC_000019.10:44898408:A:G	(self)
ss12461967	NT_011109.15:17669883:A:G	NC_000019.10:44898408:A:G	(self)
ss66820476, ss67872614, ss68017031, ss70970936, ss71581660, ss75861630, ss79281730, ss84787790, ss96308967, ss103441187, ss122904318, ss139339558, ss154469610, ss159644122, ss172399597, ss174721721	NT_011109.16:17669883:A:G	NC_000019.10:44898408:A:G	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

24 citations for rs8106922

PMID	Title	Author	Year	Journal
18823527	A genome-wide association study for late-onset Alzheimer's disease using DNA pooling.	Abraham R et al.	2008	BMC medical genomics
19118814	Genome-wide association study implicates a chromosome 12 risk locus for late-onset Alzheimer disease.	Beecham GW et al.	2009	American journal of human genetics
19327864	SNPit: a federated data integration system for the purpose of functional SNP annotation.	Shen TH et al.	2009	Computer methods and programs in biomedicine
19668339	Hippocampal atrophy as a quantitative trait in a genome-wide association study identifying novel susceptibility genes for Alzheimer's disease.	Potkin SG et al.	2009	PloS one
19734902	Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease.	Harold D et al.	2009	Nature genetics
19808960	Apolipoprotein E/C1 locus variants modify renal cell carcinoma risk.	Moore LE et al.	2009	Cancer research
19818961	Apolipoprotein E genotype is associated with serum C-reactive protein but not abdominal aortic aneurysm.	Golledge J et al.	2010	Atherosclerosis
20029386	A TOMM40 variable-length polymorphism predicts the age of late-onset Alzheimer's disease.	Roses AD et al.	2010	The pharmacogenomics journal
20885792	Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities.	Naj AC et al.	2010	PLoS genetics
21124753	Alzheimer's disease: diagnostics, prognostics and the road to prevention.	Grossman I et al.	2010	The EPMA journal
21146954	Genes and abdominal aortic aneurysm.	Hinterseher I et al.	2011	Annals of vascular surgery
21784354	The effect of TOMM40 poly-T length on gray matter volume and cognition in middle-aged persons with APOE ε3/ε3 genotype.	Johnson SC et al.	2011	Alzheimer's & dementia
21803501	Cerebrospinal fluid cortisol concentrations in healthy elderly are affected by both APOE and TOMM40 variants.	Bruno D et al.	2012	Psychoneuroendocrinology
22159054	A comprehensive genetic association study of Alzheimer disease in African Americans.	Logue MW et al.	2011	Archives of neurology
22430674	Genome-wide haplotype association study identifies the FRMD4A gene as a risk locus for Alzheimer's disease.	Lambert JC et al.	2013	Molecular psychiatry
22629316	Multi-ethnic analysis of lipid-associated loci: the NHLBI CARe project.	Musunuru K et al.	2012	PloS one
22911757	Association study of candidate gene polymorphisms with amnestic mild cognitive impairment in a Chinese population.	Liu X et al.	2012	PloS one
23193196	Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis.	Lee SH et al.	2013	Human molecular genetics
23573206	Genetic loci associated with Alzheimer's disease and cerebrospinal fluid biomarkers in a Finnish case-control cohort.	Elias-Sonnenschein LS et al.	2013	PloS one
24755620	Overrepresentation of glutamate signaling in Alzheimer's disease: network-based pathway enrichment using meta-analysis of genome-wide association studies.	Pérez-Palma E et al.	2014	PloS one
26680604	Polygenic Analysis of Late-Onset Alzheimer's Disease from Mainland China.	Jiao B et al.	2015	PloS one
30706571	A candidate gene study of risk for dementia in older, postmenopausal women: Results from the Women's Health Initiative Memory Study.	Driscoll I et al.	2019	International journal of geriatric psychiatry
33815092	Genetic Variability in Molecular Pathways Implicated in Alzheimer's Disease: A Comprehensive Review.	Vogrinc D et al.	2021	Frontiers in aging neuroscience
34310032	Protective association of the ε2/ε3 heterozygote with Alzheimer's disease is strengthened by TOMM40-APOE variants in men.	Kulminski AM et al.	2021	Alzheimer's & dementia

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

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Genomic regions, transcripts, and products
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs8106922