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rs587777628

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777628(G;T)
Make rs587777628(T;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position190999630
GeneSTAT1
is asnp
is mentioned by
dbSNPrs587777628
ebirs587777628
HLIrs587777628
Exacrs587777628
Varsomers587777628
Maprs587777628
PheGenIrs587777628
hapmaprs587777628
1000 genomesrs587777628
hgdprs587777628
ensemblrs587777628
gopubmedrs587777628
geneviewrs587777628
scholarrs587777628
googlers587777628
pharmgkbrs587777628
gwascentralrs587777628
openSNPrs587777628
23andMers587777628
23andMe allrs587777628
SNP Nexus

SNPshotrs587777628
SNPdbers587777628
MSV3drs587777628
GWAS Ctlgrs587777628
Max Magnitude0
ClinVar
Risk rs587777628(G,T;G,T)
Alt rs587777628(G,T;G,T)
Reference rs587777628(C;C)
Significance Pathogenic
Disease Immunodeficiency 31C
Variation info
Gene STAT1
CLNDBN Immunodeficiency 31C
Reversed 1
HGVS NC_000002.11:g.191864356G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000133513.3,