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rs587777629

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777629(C;C)
Make rs587777629(C;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position190995151
GeneSTAT1
is asnp
is mentioned by
dbSNPrs587777629
ebirs587777629
HLIrs587777629
Exacrs587777629
Varsomers587777629
Maprs587777629
PheGenIrs587777629
hapmaprs587777629
1000 genomesrs587777629
hgdprs587777629
ensemblrs587777629
gopubmedrs587777629
geneviewrs587777629
scholarrs587777629
googlers587777629
pharmgkbrs587777629
gwascentralrs587777629
openSNPrs587777629
23andMers587777629
23andMe allrs587777629
SNP Nexus

SNPshotrs587777629
SNPdbers587777629
MSV3drs587777629
GWAS Ctlgrs587777629
Max Magnitude0
ClinVar
Risk rs587777629(C,T;C,T)
Alt rs587777629(C,T;C,T)
Reference rs587777629(A;A)
Significance Pathogenic
Disease Immunodeficiency 31C
Variation info
Gene STAT1
CLNDBN Immunodeficiency 31C
Reversed 1
HGVS NC_000002.11:g.191859877T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000133514.3,