rs137852624

Orientation

minus

Stabilized

minus

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

Make rs137852624(A;G)

Make rs137852624(G;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

17843786

Gene

JAK3

is a	snp
is	mentioned by
dbSNP	rs137852624
dbSNP (classic)	rs137852624
ClinGen	rs137852624
ebi	rs137852624
HLI	rs137852624
Exac	rs137852624
Gnomad	rs137852624
Varsome	rs137852624
LitVar	rs137852624
Map	rs137852624
PheGenI	rs137852624
Biobank	rs137852624
1000 genomes	rs137852624
hgdp	rs137852624
ensembl	rs137852624
geneview	rs137852624
scholar	rs137852624
google	rs137852624
pharmgkb	rs137852624
gwascentral	rs137852624
openSNP	rs137852624
23andMe	rs137852624
SNPshot	rs137852624
SNPdbe	rs137852624
MSV3d	rs137852624
GWAS Ctlg	rs137852624

Max Magnitude

0

OMIM	600173
Desc
Variant	0001
Related	also

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 UniProtKB (protein)
CLNACC	RCV000009954.2,