rs765613977, AAAS

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Achalasia
CUI: C1321756
Disease: Achalasia
0.010 GeneticVariation BEFREE Later, they developed achalasia whereupon Allgrove syndrome was diagnosed clinically and confirmed by DNA sequencing which revealed a c.1331 + 1G > A mutation in the AAAS gene. 29866068 2018
Esophageal Achalasia
CUI: C0014848
Disease: Esophageal Achalasia
0.010 GeneticVariation BEFREE Later, they developed achalasia whereupon Allgrove syndrome was diagnosed clinically and confirmed by DNA sequencing which revealed a c.1331 + 1G > A mutation in the AAAS gene. 29866068 2018
Glucocorticoid deficiency with achalasia
CUI: C0271742
Disease: Glucocorticoid deficiency with achalasia
0.010 GeneticVariation BEFREE Later, they developed achalasia whereupon Allgrove syndrome was diagnosed clinically and confirmed by DNA sequencing which revealed a c.1331 + 1G > A mutation in the AAAS gene. 29866068 2018