rs137852626

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs137852626(C;T)

Make rs137852626(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

17839585

Gene

JAK3

is a	snp
is	mentioned by
dbSNP	rs137852626
dbSNP (classic)	rs137852626
ClinGen	rs137852626
ebi	rs137852626
HLI	rs137852626
Exac	rs137852626
Gnomad	rs137852626
Varsome	rs137852626
LitVar	rs137852626
Map	rs137852626
PheGenI	rs137852626
Biobank	rs137852626
1000 genomes	rs137852626
hgdp	rs137852626
ensembl	rs137852626
geneview	rs137852626
scholar	rs137852626
google	rs137852626
pharmgkb	rs137852626
gwascentral	rs137852626
openSNP	rs137852626
23andMe	rs137852626
SNPshot	rs137852626
SNPdbe	rs137852626
MSV3d	rs137852626
GWAS Ctlg	rs137852626

Max Magnitude

0

OMIM	600173
Desc
Variant	0005
Related	also

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,