AAAS, aladin WD repeat nucleoporin, 8086

N. diseases: 92; N. variants: 23
Disease: Esophageal Achalasia ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs765613977
rs765613977 		0.882 0.080 12 53321465 start lost T/C snv 4.0E-06 7.0E-06
CUI: C0014848
Disease: Esophageal Achalasia
Esophageal Achalasia 		Digestive System Diseases 0.010 1.000 1 2018 2018