rs1057520020

Orientation

minus

Stabilized

minus

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

Make rs1057520020(A;A)

Make rs1057520020(A;G)

Reference

GRCh38.p7 38.3/150

Chromosome

19

Position

17834908

Gene

JAK3

is a	snp
is	mentioned by
dbSNP	rs1057520020
dbSNP (classic)	rs1057520020
ClinGen	rs1057520020
ebi	rs1057520020
HLI	rs1057520020
Exac	rs1057520020
Gnomad	rs1057520020
Varsome	rs1057520020
LitVar	rs1057520020
Map	rs1057520020
PheGenI	rs1057520020
Biobank	rs1057520020
1000 genomes	rs1057520020
hgdp	rs1057520020
ensembl	rs1057520020
geneview	rs1057520020
scholar	rs1057520020
google	rs1057520020
pharmgkb	rs1057520020
gwascentral	rs1057520020
openSNP	rs1057520020
23andMe	rs1057520020
SNPshot	rs1057520020
SNPdbe	rs1057520020
MSV3d	rs1057520020
GWAS Ctlg	rs1057520020

Max Magnitude

0

ClinVar
Risk	rs1057520020(A;A)
Alt	rs1057520020(A;A)
Reference	Rs1057520020(G;G)
Significance	Probable-Pathogenic
Disease	Severe combined immunodeficiency disease
Variation	info
Gene	JAK3
CLNDBN	Severe combined immunodeficiency disease
Reversed	1
HGVS	NC_000019.9:g.17945717C>T
CLNSRC
CLNACC	RCV000431542.1,