rs137852507
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs137852507(A;T) |
Make rs137852507(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | X |
Position | 71110603 |
Gene | IL2RG |
is a | snp |
is | mentioned by |
dbSNP | rs137852507 |
dbSNP (classic) | rs137852507 |
ClinGen | rs137852507 |
ebi | rs137852507 |
HLI | rs137852507 |
Exac | rs137852507 |
Gnomad | rs137852507 |
Varsome | rs137852507 |
LitVar | rs137852507 |
Map | rs137852507 |
PheGenI | rs137852507 |
Biobank | rs137852507 |
1000 genomes | rs137852507 |
hgdp | rs137852507 |
ensembl | rs137852507 |
geneview | rs137852507 |
scholar | rs137852507 |
rs137852507 | |
pharmgkb | rs137852507 |
gwascentral | rs137852507 |
openSNP | rs137852507 |
23andMe | rs137852507 |
SNPshot | rs137852507 |
SNPdbe | rs137852507 |
MSV3d | rs137852507 |
GWAS Ctlg | rs137852507 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs137852507(C;C) rs137852507(T;T) |
Alt | rs137852507(C;C) rs137852507(T;T) |
Reference | Rs137852507(A;A) |
Significance | Pathogenic |
Disease | X-linked severe combined immunodeficiency |
Variation | info |
Gene | IL2RG |
CLNDBN | X-linked severe combined immunodeficiency |
Reversed | 1 |
HGVS | NC_000023.10:g.70330453T>A |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000010699.4, |