Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs110501
rs110501
HTT
1.000 0.120 4 3223751 intron variant T/C snv 0.47
CUI: C0020179
Disease: Huntington Disease
Huntington Disease 		0.700 1.000 1 2012 2012