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rs137852626

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852626(C;T)
Make rs137852626(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position17839585
GeneJAK3
is asnp
is mentioned by
dbSNPrs137852626
ebirs137852626
HLIrs137852626
Exacrs137852626
Varsomers137852626
Maprs137852626
PheGenIrs137852626
hapmaprs137852626
1000 genomesrs137852626
hgdprs137852626
ensemblrs137852626
gopubmedrs137852626
geneviewrs137852626
scholarrs137852626
googlers137852626
pharmgkbrs137852626
gwascentralrs137852626
openSNPrs137852626
23andMers137852626
23andMe allrs137852626
SNP Nexus

SNPshotrs137852626
SNPdbers137852626
MSV3drs137852626
GWAS Ctlgrs137852626
Max Magnitude0
OMIM600173
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852626(T;T)
Alt rs137852626(T;T)
Reference rs137852626(C;C)
Significance Pathogenic
Disease Severe combined immunodeficiency
Variation info
Gene JAK3
CLNDBN Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-positive, NK cell-negative
Reversed 1
HGVS NC_000019.9:g.17950394G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009958.3,