rs121908725
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
Make rs121908725(C;G) |
Make rs121908725(G;G) |
Reference | GRCh38.p7 38.3/150 |
Chromosome | 20 |
Position | 44636279 |
Gene | ADA |
is a | snp |
is | mentioned by |
dbSNP | rs121908725 |
dbSNP (classic) | rs121908725 |
ClinGen | rs121908725 |
ebi | rs121908725 |
HLI | rs121908725 |
Exac | rs121908725 |
Gnomad | rs121908725 |
Varsome | rs121908725 |
LitVar | rs121908725 |
Map | rs121908725 |
PheGenI | rs121908725 |
Biobank | rs121908725 |
1000 genomes | rs121908725 |
hgdp | rs121908725 |
ensembl | rs121908725 |
geneview | rs121908725 |
scholar | rs121908725 |
rs121908725 | |
pharmgkb | rs121908725 |
gwascentral | rs121908725 |
openSNP | rs121908725 |
23andMe | rs121908725 |
SNPshot | rs121908725 |
SNPdbe | rs121908725 |
MSV3d | rs121908725 |
GWAS Ctlg | rs121908725 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs121908725(G;G) |
Alt | rs121908725(G;G) |
Reference | Rs121908725(C;C) |
Significance | Pathogenic |
Disease | Severe combined immunodeficiency due to ADA deficiency not provided |
Variation | info |
Gene | ADA |
CLNDBN | Severe combined immunodeficiency due to ADA deficiency not provided |
Reversed | 1 |
HGVS | NC_000020.10:g.43264920G>C |
CLNSRC | UniProtKB (protein) UniProtKB (variants) |
CLNACC | RCV000059102.1, RCV000429669.1, |