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rs137852678

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852678(C;C)
Make rs137852678(C;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position190978930
GeneSTAT1
is asnp
is mentioned by
dbSNPrs137852678
ebirs137852678
HLIrs137852678
Exacrs137852678
Varsomers137852678
Maprs137852678
PheGenIrs137852678
hapmaprs137852678
1000 genomesrs137852678
hgdprs137852678
ensemblrs137852678
gopubmedrs137852678
geneviewrs137852678
scholarrs137852678
googlers137852678
pharmgkbrs137852678
gwascentralrs137852678
openSNPrs137852678
23andMers137852678
23andMe allrs137852678
SNP Nexus

SNPshotrs137852678
SNPdbers137852678
MSV3drs137852678
GWAS Ctlgrs137852678
Max Magnitude0
OMIM600555
Desc
Variant0003
Relatedalso
ClinVar
Risk rs137852678(C;C)
Alt rs137852678(C;C)
Reference rs137852678(T;T)
Significance Pathogenic
Disease Mycobacterial and viral infections
Variation info
Gene STAT1
CLNDBN Mycobacterial and viral infections, susceptibility to, autosomal recessive
Reversed 1
HGVS NC_000002.11:g.191843656A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009612.3,