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rs7966230

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common/normal
ReferenceGRCh38 38.1/141
Chromosome12
Position6126464
GeneVWF
is asnp
is mentioned by
dbSNPrs7966230
ebirs7966230
HLIrs7966230
Exacrs7966230
Varsomers7966230
Maprs7966230
PheGenIrs7966230
hapmaprs7966230
1000 genomesrs7966230
hgdprs7966230
ensemblrs7966230
gopubmedrs7966230
geneviewrs7966230
scholarrs7966230
googlers7966230
pharmgkbrs7966230
gwascentralrs7966230
openSNPrs7966230
23andMers7966230
23andMe allrs7966230
SNP Nexus

SNPshotrs7966230
SNPdbers7966230
MSV3drs7966230
GWAS Ctlgrs7966230
Max Magnitude0

rs7966230, also known as -1793G/C, is a SNP in the VWF gene on chromosome 12.

This SNP is reasonably polymorphic in many populations. It does show a significant association with plasma VWF levels, reportedly more marked in subjects who are more than 40 years of age. The variant is reported to be associated with somewhat lower plasma levels of VWF. [PMID 10848823]

Publications discussing this mutation's discovery usually refer to the strand sequenced, since this is a SNP found upstream of the gene in the promoter region. The gene is transcribed in minus direction (based on the GRCh37 assembly), and so on the minus strand, the more common allele is (G) and the variant is (C). However, dbSNP defines this SNP on the plus strand (as does SNPedia and 23andMe), so the more common allele for rs7966230 is reported here as (C) and the variant as (G).


[PMID 23114148] [A1381T and -1793G/C Polymorphisms of vWF Gene Impact the Plasma vWF Levels in Yugur, Tibetan and Han Nationalities of China]