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rs387906674

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 rs387906674(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position93893025
GenePROS1
is asnp
is mentioned by
dbSNPrs387906674
dbSNP (classic)rs387906674
ClinGenrs387906674
ebirs387906674
HLIrs387906674
Exacrs387906674
Gnomadrs387906674
Varsomers387906674
LitVarrs387906674
Maprs387906674
PheGenIrs387906674
Biobankrs387906674
1000 genomesrs387906674
hgdprs387906674
ensemblrs387906674
geneviewrs387906674
scholarrs387906674
googlers387906674
pharmgkbrs387906674
gwascentralrs387906674
openSNPrs387906674
23andMers387906674
SNPshotrs387906674
SNPdbers387906674
MSV3drs387906674
GWAS Ctlgrs387906674
Max Magnitude5

aka c.1063C>T (p.Arg355Cys)

ClinVar
Risk rs387906674(T;T)
Alt rs387906674(T;T)
Reference Rs387906674(C;C)
Significance Pathogenic
Disease Protein S deficiency
Variation info
Gene PROS1
CLNDBN Protein S deficiency
Reversed 1
HGVS NC_000003.11:g.93611869G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000022724.25,