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rs121918474

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 rs121918474(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position93905799
GenePROS1
is asnp
is mentioned by
dbSNPrs121918474
dbSNP (classic)rs121918474
ClinGenrs121918474
ebirs121918474
HLIrs121918474
Exacrs121918474
Gnomadrs121918474
Varsomers121918474
LitVarrs121918474
Maprs121918474
PheGenIrs121918474
Biobankrs121918474
1000 genomesrs121918474
hgdprs121918474
ensemblrs121918474
geneviewrs121918474
scholarrs121918474
googlers121918474
pharmgkbrs121918474
gwascentralrs121918474
openSNPrs121918474
23andMers121918474
SNPshotrs121918474
SNPdbers121918474
MSV3drs121918474
GWAS Ctlgrs121918474
GMAF0.0004591
Max Magnitude5

aka c.586A>G (p.Lys196Glu)

23andMe name: i5005056

OMIM176880
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918474(G;G)
Alt rs121918474(G;G)
Reference Rs121918474(A;A)
Significance Pathogenic
Disease Protein S deficiency
Variation info
Gene PROS1
CLNDBN Protein S deficiency
Reversed 1
HGVS NC_000003.11:g.93624643T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014246.27,