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rs387906767

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387906767(C;C)
Make rs387906767(C;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position190999674
GeneSTAT1
is asnp
is mentioned by
dbSNPrs387906767
ebirs387906767
HLIrs387906767
Exacrs387906767
Varsomers387906767
Maprs387906767
PheGenIrs387906767
hapmaprs387906767
1000 genomesrs387906767
hgdprs387906767
ensemblrs387906767
gopubmedrs387906767
geneviewrs387906767
scholarrs387906767
googlers387906767
pharmgkbrs387906767
gwascentralrs387906767
openSNPrs387906767
23andMers387906767
23andMe allrs387906767
SNP Nexus

SNPshotrs387906767
SNPdbers387906767
MSV3drs387906767
GWAS Ctlgrs387906767
Max Magnitude0
ClinVar
Risk rs387906767(C;C)
Alt rs387906767(C;C)
Reference rs387906767(G;G)
Significance Pathogenic
Disease Immunodeficiency 31C
Variation info
Gene STAT1
CLNDBN Immunodeficiency 31C
Reversed 1
HGVS NC_000002.11:g.191864400C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000022995.3,