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rs137852624

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs137852624(A;G)
Make rs137852624(G;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position17843786
GeneJAK3
is asnp
is mentioned by
dbSNPrs137852624
ebirs137852624
HLIrs137852624
Exacrs137852624
Varsomers137852624
Maprs137852624
PheGenIrs137852624
hapmaprs137852624
1000 genomesrs137852624
hgdprs137852624
ensemblrs137852624
gopubmedrs137852624
geneviewrs137852624
scholarrs137852624
googlers137852624
pharmgkbrs137852624
gwascentralrs137852624
openSNPrs137852624
23andMers137852624
23andMe allrs137852624
SNP Nexus

SNPshotrs137852624
SNPdbers137852624
MSV3drs137852624
GWAS Ctlgrs137852624
Max Magnitude0
OMIM600173
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852624(G;G)
Alt rs137852624(G;G)
Reference rs137852624(A;A)
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.17954595T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009954.2,