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rs863223398

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863223398(A;G)
Make rs863223398(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position190995173
GeneSTAT1
is asnp
is mentioned by
dbSNPrs863223398
dbSNP (classic)rs863223398
ClinGenrs863223398
ebirs863223398
HLIrs863223398
Exacrs863223398
Gnomadrs863223398
Varsomers863223398
LitVarrs863223398
Maprs863223398
PheGenIrs863223398
Biobankrs863223398
1000 genomesrs863223398
hgdprs863223398
ensemblrs863223398
geneviewrs863223398
scholarrs863223398
googlers863223398
pharmgkbrs863223398
gwascentralrs863223398
openSNPrs863223398
23andMers863223398
SNPshotrs863223398
SNPdbers863223398
MSV3drs863223398
GWAS Ctlgrs863223398
Max Magnitude0
ClinVar
Risk rs863223398(G;G)
Alt rs863223398(G;G)
Reference Rs863223398(A;A)
Significance Pathogenic
Disease Immunodeficiency 31C
Variation info
Gene STAT1
CLNDBN Immunodeficiency 31C
Reversed 1
HGVS NC_000002.11:g.191859899T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000190349.4,