rs244076
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs244076(A;G) |
Make rs244076(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 44624274 |
Gene | ADA |
is a | snp |
is | mentioned by |
dbSNP | rs244076 |
dbSNP (classic) | rs244076 |
ClinGen | rs244076 |
ebi | rs244076 |
HLI | rs244076 |
Exac | rs244076 |
Gnomad | rs244076 |
Varsome | rs244076 |
LitVar | rs244076 |
Map | rs244076 |
PheGenI | rs244076 |
Biobank | rs244076 |
1000 genomes | rs244076 |
hgdp | rs244076 |
ensembl | rs244076 |
geneview | rs244076 |
scholar | rs244076 |
rs244076 | |
pharmgkb | rs244076 |
gwascentral | rs244076 |
openSNP | rs244076 |
23andMe | rs244076 |
SNPshot | rs244076 |
SNPdbe | rs244076 |
MSV3d | rs244076 |
GWAS Ctlg | rs244076 |
GMAF | 0.2213 |
Max Magnitude | 0 |
? | (A;A) (A;G) (G;G) | 28 |
---|---|---|
|
[PMID 19902562] Purine biosynthetic pathway genes and methotrexate response in rheumatoid arthritis patients among north Indians
ClinVar | |
---|---|
Risk | rs244076(G;G) |
Alt | rs244076(G;G) |
Reference | Rs244076(A;A) |
Significance | Non-pathogenic |
Disease | not specified Severe combined immunodeficiency due to ADA deficiency |
Variation | info |
Gene | ADA |
CLNDBN | not specified Severe combined immunodeficiency due to ADA deficiency |
Reversed | 1 |
HGVS | NC_000020.10:g.43252915T>C |
CLNSRC | |
CLNACC | RCV000242567.1, RCV000280771.1, |