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rs587777630

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777630(A;A)
Make rs587777630(A;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position190986921
GeneSTAT1
is asnp
is mentioned by
dbSNPrs587777630
ebirs587777630
HLIrs587777630
Exacrs587777630
Varsomers587777630
Maprs587777630
PheGenIrs587777630
hapmaprs587777630
1000 genomesrs587777630
hgdprs587777630
ensemblrs587777630
gopubmedrs587777630
geneviewrs587777630
scholarrs587777630
googlers587777630
pharmgkbrs587777630
gwascentralrs587777630
openSNPrs587777630
23andMers587777630
23andMe allrs587777630
SNP Nexus

SNPshotrs587777630
SNPdbers587777630
MSV3drs587777630
GWAS Ctlgrs587777630
Max Magnitude0
ClinVar
Risk rs587777630(A,G;A,G)
Alt rs587777630(A,G;A,G)
Reference rs587777630(C;C)
Significance Pathogenic
Disease Immunodeficiency 31C
Variation info
Gene STAT1
CLNDBN Immunodeficiency 31C
Reversed 1
HGVS NC_000002.11:g.191851647G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000133515.3,