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rs121918475

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 5 Partial protein-S deficiency; higher risk for blood clotting related issues
Make rs121918475(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position93898462
GenePROS1
is asnp
is mentioned by
dbSNPrs121918475
dbSNP (old)rs121918475
ClinGenrs121918475
ebirs121918475
HLIrs121918475
Exacrs121918475
Gnomadrs121918475
Varsomers121918475
Maprs121918475
PheGenIrs121918475
Biobankrs121918475
1000 genomesrs121918475
hgdprs121918475
ensemblrs121918475
gopubmedrs121918475
geneviewrs121918475
scholarrs121918475
googlers121918475
pharmgkbrs121918475
gwascentralrs121918475
openSNPrs121918475
23andMers121918475
23andMe allrs121918475
SNPshotrs121918475
SNPdbers121918475
MSV3drs121918475
GWAS Ctlgrs121918475
Max Magnitude5

aka c.835C>T (p.Gln279Ter)

23andMe name: i5005058

OMIM176880
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918475(T;T)
Alt rs121918475(T;T)
Reference Rs121918475(C;C)
Significance Pathogenic
Disease Protein S deficiency
Variation info
Gene PROS1
CLNDBN Protein S deficiency
Reversed 1
HGVS NC_000003.11:g.93617306G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014250.27,