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rs121918473

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 5 Partial protein-S deficiency; higher risk for blood clotting related issues
Make rs121918473(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position93898524
GenePROS1
is asnp
is mentioned by
dbSNPrs121918473
dbSNP (old)rs121918473
ClinGenrs121918473
ebirs121918473
HLIrs121918473
Exacrs121918473
Gnomadrs121918473
Varsomers121918473
Maprs121918473
PheGenIrs121918473
Biobankrs121918473
1000 genomesrs121918473
hgdprs121918473
ensemblrs121918473
gopubmedrs121918473
geneviewrs121918473
scholarrs121918473
googlers121918473
pharmgkbrs121918473
gwascentralrs121918473
openSNPrs121918473
23andMers121918473
23andMe allrs121918473
SNPshotrs121918473
SNPdbers121918473
MSV3drs121918473
GWAS Ctlgrs121918473
Max Magnitude5

aka c.773A>G (p.Asn258Ser)

23andMe name: i5005055

OMIM176880
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918473(G;G)
Alt rs121918473(G;G)
Reference Rs121918473(A;A)
Significance Pathogenic
Disease Protein S deficiency
Variation info
Gene PROS1
CLNDBN Protein S deficiency
Reversed 1
HGVS NC_000003.11:g.93617368T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014245.26,