rs55778349

plus

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

Make rs55778349(C;C)

Make rs55778349(C;G)

Reference

GRCh38 38.1/141

Chromosome

19

Position

17843141

Gene

JAK3

is a	snp
is	mentioned by
dbSNP	rs55778349
dbSNP (classic)	rs55778349
ClinGen	rs55778349
ebi	rs55778349
HLI	rs55778349
Exac	rs55778349
Gnomad	rs55778349
Varsome	rs55778349
LitVar	rs55778349
Map	rs55778349
PheGenI	rs55778349
Biobank	rs55778349
1000 genomes	rs55778349
hgdp	rs55778349
ensembl	rs55778349
geneview	rs55778349
scholar	rs55778349
google	rs55778349
pharmgkb	rs55778349
gwascentral	rs55778349
openSNP	rs55778349
23andMe	rs55778349
SNPshot	rs55778349
SNPdbe	rs55778349
MSV3d	rs55778349
GWAS Ctlg	rs55778349

GMAF

0.003214

Max Magnitude

0

ClinVar
Risk	rs55778349(C;C)
Alt	rs55778349(C;C)
Reference	Rs55778349(G;G)
Significance	Other
Disease	Severe combined immunodeficiency disease not specified not provided
Variation	info
Gene	JAK3
CLNDBN	Severe combined immunodeficiency disease not specified not provided
Reversed	0
HGVS	NC_000019.9:g.17953950G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000030094.1, RCV000121271.2, RCV000224911.1,

[PMID 17433] [Inhibition of 4-aminobutyrate transaminase by ethanolamine-O-sulfate].

[PMID 10900158] Molecular modeling of the Jak3 kinase domains and structural basis for severe combined immunodeficiency.

[PMID 10982185] Complete genomic organization of the human JAK3 gene and mutation analysis in severe combined immunodeficiency by single-strand conformation polymorphism.

[PMID 11668610] Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency.

[PMID 17456055] Loss-of-function JAK3 mutations in TMD and AMKL of Down syndrome.

[PMID 20132407 ] Perspectives for the use of structural information and chemical genetics to develop inhibitors of Janus kinases.