Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918550
rs121918550
AAAS
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
Glucocorticoid deficiency with achalasia 		0.810 GeneticVariation UNIPROT Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene. 11159947

2001