rs796051888
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs796051888(A;C) |
Make rs796051888(C;C) |
Reference | GRCh38.p2 38.2/146 |
Chromosome | 10 |
Position | 6025968 |
Gene | IL2RA |
is a | snp |
is | mentioned by |
dbSNP | rs796051888 |
dbSNP (classic) | rs796051888 |
ClinGen | rs796051888 |
ebi | rs796051888 |
HLI | rs796051888 |
Exac | rs796051888 |
Gnomad | rs796051888 |
Varsome | rs796051888 |
LitVar | rs796051888 |
Map | rs796051888 |
PheGenI | rs796051888 |
Biobank | rs796051888 |
1000 genomes | rs796051888 |
hgdp | rs796051888 |
ensembl | rs796051888 |
geneview | rs796051888 |
scholar | rs796051888 |
rs796051888 | |
pharmgkb | rs796051888 |
gwascentral | rs796051888 |
openSNP | rs796051888 |
23andMe | rs796051888 |
SNPshot | rs796051888 |
SNPdbe | rs796051888 |
MSV3d | rs796051888 |
GWAS Ctlg | rs796051888 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs796051888(C;C) |
Alt | rs796051888(C;C) |
Reference | Rs796051888(A;A) |
Significance | Pathogenic |
Disease | Interleukin 2 receptor |
Variation | info |
Gene | IL2RA |
CLNDBN | Interleukin 2 receptor, alpha, deficiency of |
Reversed | 1 |
HGVS | NC_000010.10:g.6067931T>G |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000185642.4, |