rs879253742
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(T;T) | 0 | common in clinvar |
Make rs879253742(C;C) |
Make rs879253742(C;T) |
Reference | GRCh38.p2 38.2/147 |
Chromosome | X |
Position | 71111493 |
Gene | IL2RG |
is a | snp |
is | mentioned by |
dbSNP | rs879253742 |
dbSNP (classic) | rs879253742 |
ClinGen | rs879253742 |
ebi | rs879253742 |
HLI | rs879253742 |
Exac | rs879253742 |
Gnomad | rs879253742 |
Varsome | rs879253742 |
LitVar | rs879253742 |
Map | rs879253742 |
PheGenI | rs879253742 |
Biobank | rs879253742 |
1000 genomes | rs879253742 |
hgdp | rs879253742 |
ensembl | rs879253742 |
geneview | rs879253742 |
scholar | rs879253742 |
rs879253742 | |
pharmgkb | rs879253742 |
gwascentral | rs879253742 |
openSNP | rs879253742 |
23andMe | rs879253742 |
SNPshot | rs879253742 |
SNPdbe | rs879253742 |
MSV3d | rs879253742 |
GWAS Ctlg | rs879253742 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs879253742(C;C) |
Alt | rs879253742(C;C) |
Reference | Rs879253742(T;T) |
Significance | Probable-Pathogenic |
Disease | X-linked severe combined immunodeficiency |
Variation | info |
Gene | IL2RG |
CLNDBN | X-linked severe combined immunodeficiency |
Reversed | 1 |
HGVS | NC_000023.10:g.70331343A>G |
CLNSRC | |
CLNACC | RCV000234914.1, |