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rs387906762

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs387906762(A;G)
Make rs387906762(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position190998246
GeneSTAT1
is asnp
is mentioned by
dbSNPrs387906762
ebirs387906762
HLIrs387906762
Exacrs387906762
Varsomers387906762
Maprs387906762
PheGenIrs387906762
hapmaprs387906762
1000 genomesrs387906762
hgdprs387906762
ensemblrs387906762
gopubmedrs387906762
geneviewrs387906762
scholarrs387906762
googlers387906762
pharmgkbrs387906762
gwascentralrs387906762
openSNPrs387906762
23andMers387906762
23andMe allrs387906762
SNP Nexus

SNPshotrs387906762
SNPdbers387906762
MSV3drs387906762
GWAS Ctlgrs387906762
Max Magnitude0
ClinVar
Risk rs387906762(G;G)
Alt rs387906762(G;G)
Reference rs387906762(A;A)
Significance Pathogenic
Disease Immunodeficiency 31C
Variation info
Gene STAT1
CLNDBN Immunodeficiency 31C
Reversed 1
HGVS NC_000002.11:g.191862972T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000022990.3,