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: rs362272
rs362272
HTT
1.000 0.120 4 3233253 missense variant G/A;T snv 0.29
CUI: C0020179
Disease: Huntington Disease
Huntington Disease
0.700 1.000 1 2012 2012