Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1210554604
rs1210554604
HTT
1 1.000 0.120 4 3131662 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs13102260
rs13102260
1 1.000 0.120 4 3074678 intron variant G/A snv 0.15 0.010 1.000 1 2015 2015
dbSNP: rs1313770
rs1313770
1 1.000 0.120 4 3056082 intron variant A/G snv 0.57 0.010 1.000 1 2005 2005