HAP1, huntingtin associated protein 1, 9001

N. diseases: 65; N. variants: 2
Disease: Huntington Disease ×
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: rs4523977
rs4523977 		1.000 0.120 17 41727098 missense variant G/A snv 0.23 0.18
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2012 2012