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rs863224838

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GG;T) 5 Partial protein-S deficiency; higher risk for blood clotting related issues
(T;T) 0 common in clinvar


Make rs863224838(GG;GG)
ReferenceGRCh38.p2 38.2/146
Chromosome3
Position93893121
GenePROS1
is asnp
is mentioned by
dbSNPrs863224838
dbSNP (classic)rs863224838
ClinGenrs863224838
ebirs863224838
HLIrs863224838
Exacrs863224838
Gnomadrs863224838
Varsomers863224838
LitVarrs863224838
Maprs863224838
PheGenIrs863224838
Biobankrs863224838
1000 genomesrs863224838
hgdprs863224838
ensemblrs863224838
geneviewrs863224838
scholarrs863224838
googlers863224838
pharmgkbrs863224838
gwascentralrs863224838
openSNPrs863224838
23andMers863224838
SNPshotrs863224838
SNPdbers863224838
MSV3drs863224838
GWAS Ctlgrs863224838
Max Magnitude5

aka c.967delTinsGG (p.Phe323Glyfs)

ClinVar
Risk rs863224838(GG;GG)
Alt rs863224838(GG;GG)
Reference Rs863224838(T;T)
Significance Pathogenic
Disease Thrombophilia due to protein S deficiency
Variation info
Gene PROS1
CLNDBN Thrombophilia due to protein S deficiency, autosomal recessive
Reversed 1
HGVS NC_000003.11:g.93611965delAinsCC
CLNSRC
CLNACC RCV000197344.1,