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rs267606981

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 5 Partial protein-S deficiency; higher risk for blood clotting related issues
Make rs267606981(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position93874245
GenePROS1
is asnp
is mentioned by
dbSNPrs267606981
dbSNP (classic)rs267606981
ClinGenrs267606981
ebirs267606981
HLIrs267606981
Exacrs267606981
Gnomadrs267606981
Varsomers267606981
LitVarrs267606981
Maprs267606981
PheGenIrs267606981
Biobankrs267606981
1000 genomesrs267606981
hgdprs267606981
ensemblrs267606981
geneviewrs267606981
scholarrs267606981
googlers267606981
pharmgkbrs267606981
gwascentralrs267606981
openSNPrs267606981
23andMers267606981
SNPshotrs267606981
SNPdbers267606981
MSV3drs267606981
GWAS Ctlgrs267606981
Max Magnitude5

aka c.2031A>T (p.Ter677Tyr)

ClinVar
Risk rs267606981(G;G) rs267606981(T;T)
Alt rs267606981(G;G) rs267606981(T;T)
Reference Rs267606981(A;A)
Significance Pathogenic
Disease Protein S deficiency
Variation info
Gene PROS1
CLNDBN Protein S deficiency
Reversed 1
HGVS NC_000003.11:g.93593089T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014248.25,