rs267606634
From SNPedia
Orientation | minus |
Stabilized | minus |
Geno | Mag | Summary |
---|---|---|
(A;A) | 0 | common in clinvar |
Make rs267606634(A;G) |
Make rs267606634(G;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 20 |
Position | 44626528 |
Gene | ADA |
is a | snp |
is | mentioned by |
dbSNP | rs267606634 |
dbSNP (classic) | rs267606634 |
ClinGen | rs267606634 |
ebi | rs267606634 |
HLI | rs267606634 |
Exac | rs267606634 |
Gnomad | rs267606634 |
Varsome | rs267606634 |
LitVar | rs267606634 |
Map | rs267606634 |
PheGenI | rs267606634 |
Biobank | rs267606634 |
1000 genomes | rs267606634 |
hgdp | rs267606634 |
ensembl | rs267606634 |
geneview | rs267606634 |
scholar | rs267606634 |
rs267606634 | |
pharmgkb | rs267606634 |
gwascentral | rs267606634 |
openSNP | rs267606634 |
23andMe | rs267606634 |
SNPshot | rs267606634 |
SNPdbe | rs267606634 |
MSV3d | rs267606634 |
GWAS Ctlg | rs267606634 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs267606634(G;G) rs267606634(T;T) |
Alt | rs267606634(G;G) rs267606634(T;T) |
Reference | Rs267606634(A;A) |
Significance | Pathogenic |
Disease | Severe combined immunodeficiency |
Variation | info |
Gene | ADA |
CLNDBN | Severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency |
Reversed | 1 |
HGVS | NC_000020.10:g.43255169T>C |
CLNSRC | OMIM Allelic Variant |
CLNACC | RCV000002058.3, |