rs193922364
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(CT;CT) | 0 | common in clinvar |
Make rs193922364(-;-) |
Make rs193922364(-;CT) |
Reference | GRCh38 38.1/141 |
Chromosome | 19 |
Position | 17842498 |
Gene | JAK3 |
is a | snp |
is | mentioned by |
dbSNP | rs193922364 |
dbSNP (classic) | rs193922364 |
ClinGen | rs193922364 |
ebi | rs193922364 |
HLI | rs193922364 |
Exac | rs193922364 |
Gnomad | rs193922364 |
Varsome | rs193922364 |
LitVar | rs193922364 |
Map | rs193922364 |
PheGenI | rs193922364 |
Biobank | rs193922364 |
1000 genomes | rs193922364 |
hgdp | rs193922364 |
ensembl | rs193922364 |
geneview | rs193922364 |
scholar | rs193922364 |
rs193922364 | |
pharmgkb | rs193922364 |
gwascentral | rs193922364 |
openSNP | rs193922364 |
23andMe | rs193922364 |
SNPshot | rs193922364 |
SNPdbe | rs193922364 |
MSV3d | rs193922364 |
GWAS Ctlg | rs193922364 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922364(-;-) |
Alt | rs193922364(-;-) |
Reference | Rs193922364(CT;CT) |
Significance | Pathogenic |
Disease | Severe combined immunodeficiency disease not provided |
Variation | info |
Gene | JAK3 |
CLNDBN | Severe combined immunodeficiency disease not provided |
Reversed | 1 |
HGVS | NC_000019.9:g.17953307_17953308delAG |
CLNSRC | ClinVar LabCorp |
CLNACC | RCV000030095.1, RCV000255037.1, |