rs137852624
From SNPedia
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 |
rs137852624 | |
pharmgkb | rs137852624 |
gwascentral | rs137852624 |
openSNP | rs137852624 |
23andMe | rs137852624 |
SNPshot | rs137852624 |
SNPdbe | rs137852624 |
MSV3d | rs137852624 |
GWAS Ctlg | rs137852624 |
Max Magnitude | 0 |
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, |