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rs587777705

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777705(C;C)
Make rs587777705(C;T)
ReferenceGRCh38 38.1/142
Chromosome2
Position190976990
GeneSTAT1
is asnp
is mentioned by
dbSNPrs587777705
ClinGenrs587777705
ebirs587777705
HLIrs587777705
Exacrs587777705
Varsomers587777705
Maprs587777705
PheGenIrs587777705
hapmaprs587777705
1000 genomesrs587777705
hgdprs587777705
ensemblrs587777705
gopubmedrs587777705
geneviewrs587777705
scholarrs587777705
googlers587777705
pharmgkbrs587777705
gwascentralrs587777705
openSNPrs587777705
23andMers587777705
23andMe allrs587777705
SNP Nexus

SNPshotrs587777705
SNPdbers587777705
MSV3drs587777705
GWAS Ctlgrs587777705
Max Magnitude0
ClinVar
Risk rs587777705(C;C) Rs587777705(T;T)
Alt rs587777705(C;C) Rs587777705(T;T)
Reference Rs587777705(A;A)
Significance Pathogenic
Disease Immunodeficiency 31a
Variation info
Gene STAT1
CLNDBN Immunodeficiency 31a
Reversed 1
HGVS NC_000002.11:g.191841716T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000144041.3,