rs193922346
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs193922346(G;T) |
Make rs193922346(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 71110689 |
Gene | IL2RG |
is a | snp |
is | mentioned by |
dbSNP | rs193922346 |
dbSNP (classic) | rs193922346 |
ClinGen | rs193922346 |
ebi | rs193922346 |
HLI | rs193922346 |
Exac | rs193922346 |
Gnomad | rs193922346 |
Varsome | rs193922346 |
LitVar | rs193922346 |
Map | rs193922346 |
PheGenI | rs193922346 |
Biobank | rs193922346 |
1000 genomes | rs193922346 |
hgdp | rs193922346 |
ensembl | rs193922346 |
geneview | rs193922346 |
scholar | rs193922346 |
rs193922346 | |
pharmgkb | rs193922346 |
gwascentral | rs193922346 |
openSNP | rs193922346 |
23andMe | rs193922346 |
SNPshot | rs193922346 |
SNPdbe | rs193922346 |
MSV3d | rs193922346 |
GWAS Ctlg | rs193922346 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs193922346(T;T) |
Alt | rs193922346(T;T) |
Reference | Rs193922346(G;G) |
Significance | Pathogenic |
Disease | X-linked severe combined immunodeficiency not provided |
Variation | info |
Gene | IL2RG |
CLNDBN | X-linked severe combined immunodeficiency not provided |
Reversed | 1 |
HGVS | NC_000023.10:g.70330539C>A |
CLNSRC | ClinVar |
CLNACC | RCV000030053.1, RCV000430650.1, |