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rs137852627

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GCC;GCC) 0 common in clinvar
Make rs137852627(-;-)
Make rs137852627(-;GCC)
ReferenceGRCh38 38.1/141
Chromosome19
Position17844244
GeneJAK3
is asnp
is mentioned by
dbSNPrs137852627
ebirs137852627
HLIrs137852627
Exacrs137852627
Varsomers137852627
Maprs137852627
PheGenIrs137852627
hapmaprs137852627
1000 genomesrs137852627
hgdprs137852627
ensemblrs137852627
gopubmedrs137852627
geneviewrs137852627
scholarrs137852627
googlers137852627
pharmgkbrs137852627
gwascentralrs137852627
openSNPrs137852627
23andMers137852627
23andMe allrs137852627
SNP Nexus

SNPshotrs137852627
SNPdbers137852627
MSV3drs137852627
GWAS Ctlgrs137852627
Max Magnitude0
OMIM600173
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852627(;)
Alt rs137852627(;)
Reference rs137852627(GCC;GCC)
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.17955053_17955055delGGC
CLNSRC OMIM Allelic Variant
CLNACC RCV000009960.4,