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: rs28935485
rs28935485
3 0.925 0.160 X 101398534 missense variant G/C snv 0.010 1.000 1 2012 2012
dbSNP: rs28935197
rs28935197
10 0.776 0.280 X 101398942 missense variant T/C snv 5.5E-06 0.010 1.000 1 2012 2012
dbSNP: rs104894845
rs104894845
8 0.807 0.160 X 101401752 missense variant C/G;T snv 5.5E-04 0.010 1.000 1 2018 2018
dbSNP: rs76763715
rs76763715
GBA
35 0.658 0.520 1 155235843 missense variant T/C;G snv 2.3E-03 0.010 1.000 1 2009 2009
dbSNP: rs1289324472
rs1289324472
GBA
21 0.716 0.400 1 155236354 missense variant T/C snv 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs72555392
rs72555392
7 0.807 0.200 3 33072613 missense variant C/T snv 3.6E-05 0.010 1.000 1 2006 2006
dbSNP: rs368687817
rs368687817
2 1.000 0.120 17 42543079 missense variant C/T snv 3.3E-05 4.2E-05 0.010 1.000 1 2018 2018
dbSNP: rs120074117
rs120074117
5 0.882 0.160 11 6394204 missense variant G/A;C;T snv 1.2E-05; 4.0E-06; 1.4E-04 0.010 1.000 1 1991 1991