rs137852627

Orientation

minus

Stabilized

minus

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

Make rs137852627(-;-)

Make rs137852627(-;GCC)

Reference

GRCh38 38.1/141

Chromosome

19

Position

17844244

Gene

JAK3

is a	snp
is	mentioned by
dbSNP	rs137852627
dbSNP (classic)	rs137852627
ClinGen	rs137852627
ebi	rs137852627
HLI	rs137852627
Exac	rs137852627
Gnomad	rs137852627
Varsome	rs137852627
LitVar	rs137852627
Map	rs137852627
PheGenI	rs137852627
Biobank	rs137852627
1000 genomes	rs137852627
hgdp	rs137852627
ensembl	rs137852627
geneview	rs137852627
scholar	rs137852627
google	rs137852627
pharmgkb	rs137852627
gwascentral	rs137852627
openSNP	rs137852627
23andMe	rs137852627
SNPshot	rs137852627
SNPdbe	rs137852627
MSV3d	rs137852627
GWAS Ctlg	rs137852627

Max Magnitude

0

OMIM	600173
Desc
Variant	0007
Related	also

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,