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rs137852625

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852625(A;A)
Make rs137852625(A;C)
ReferenceGRCh38 38.1/141
Chromosome19
Position17837938
GeneJAK3
is asnp
is mentioned by
dbSNPrs137852625
ebirs137852625
HLIrs137852625
Exacrs137852625
Varsomers137852625
Maprs137852625
PheGenIrs137852625
hapmaprs137852625
1000 genomesrs137852625
hgdprs137852625
ensemblrs137852625
gopubmedrs137852625
geneviewrs137852625
scholarrs137852625
googlers137852625
pharmgkbrs137852625
gwascentralrs137852625
openSNPrs137852625
23andMers137852625
23andMe allrs137852625
SNP Nexus

SNPshotrs137852625
SNPdbers137852625
MSV3drs137852625
GWAS Ctlgrs137852625
Max Magnitude0
OMIM600173
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852625(A;A)
Alt rs137852625(A;A)
Reference rs137852625(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.17948747G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009957.4,