AAAS, aladin WD repeat nucleoporin, 8086

N. diseases: 92; N. variants: 23
Disease: Hyperreflexia ×
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: rs121918550
rs121918550 		1.000 0.080 12 53309624 missense variant A/G snv 1.2E-04 4.9E-05
CUI: C0151889
Disease: Hyperreflexia
Hyperreflexia 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases 0.700 0