Submitter Handle UWGC Submitter SNP ID mthfr-e4+f79 RefSNP(rs#) rs1801133 Submitted Batch ID mthfr.1 Submitted Date Jan 30, 2001 Publication Cited [1] Gene based polymorphism discovery First entry to dbSNP Jan 30 2001 12:00:00:000AM Resource Links STS Accession G67549 Submitted STS ID csnpmthfr-pcr4-1 Submitted Gene Name MTHFR Submitted Gene ID 4524 Submitted SNP Synonyms N.D Submitted linkout N.D Assay Species Homo sapiens Molecular Type Genomic Method RESEQ_POLYPHRED_CONFIRM Ascertainment Samplesize 74 Population N.D. Allele Observed Allele C/T Ancestral Allele Allele Origin T:Germline C:Germline SNP Class SNV CpG Code nonCpG Validation Validation Status HWE Goodness of Fit not applicable Variation Frequency Submission N.D. Genotype Summary population count: 1 Genotype Submission N.D. Haplotype N.D.   Fasta sequence   (Legend) >gnl|dbSNP|ss2978066|allelePos=51|len=101|taxid=9606|alleles='C/T'|mol=Genomic GAGCTTTGAG GCTGACCTGA AGCACTTGAA GGAGAAGGTG TCTGCGGGAG Y CGATTTCATC ATCACGCAGC TTTTCTTTGA GGCTGACACA TTCTTCCGCT   Submitted Frequency for ss2978066 There is no frequency submission for ss2978066.   dbSNP summary of Genotypes for ss2978066 Population ID  -Class Total Sample (2N) Founder (2N) Major Allele Freq. Minor Allele Freq. Genotype Freq. HWE Goodness of Fit Data Source NIHPDR - NORTH AMERICA 74 74 C=0.78378379 T=0.21621622 C/C=0.64864862 C/T=0.27027026 T/T=0.08108108 Pr(chiSq=1.519,df=1) =0.251 Genotype Freq.   Submitted individual genotype for ss2978066 There is no individual genotype data for ss2978066.

GENERAL: Contact Us | Homepage | Announcements |dbSNP Summary | Genome | FTP SERVER | Build History | Handle Request
DOCUMENTATION: FAQ | Searchable FAQ Archive | Overview | How to Submit | RefSNP Summary Info | Database Schema
SEARCH: Entrez SNP | Blast SNP | Batch Query | By Submitter |New Batches | Method | Population | Publication | Batch | Locus Info | Between Marker
NCBI: PubMed | Entrez | BLAST | OMIM | Taxonomy | Structure

Disclaimer     Privacy statement