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: rs121909218
rs121909218
12 0.672 0.360 10 87933145 missense variant G/A snv 0.820 1.000 2 1997 2015
dbSNP: rs587782350
rs587782350
2 0.776 0.160 10 87957955 missense variant C/T snv 0.810 1.000 1 1997 2017
dbSNP: rs121909231
rs121909231
5 0.667 0.600 10 87961095 stop gained C/A;T snv 0.730 1.000 3 1997 2015
dbSNP: rs121909219
rs121909219
2 0.689 0.400 10 87957915 stop gained C/A;T snv 0.710 1.000 1 1997 2016
dbSNP: rs121909224
rs121909224
7 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.710 1.000 1 1997 2013
dbSNP: rs562015640
rs562015640
15 0.742 0.360 10 87960957 stop gained A/G;T snv 1.2E-05 0.710 1.000 1 1997 2008
dbSNP: rs786201044
rs786201044
3 0.827 0.200 10 87933165 missense variant T/C snv 0.710 0.857 1 2000 2013
dbSNP: rs1085308048
rs1085308048
2 0.851 0.320 10 87933175 stop gained T/G snv 0.010 1.000 1 1998 1998
dbSNP: rs762518389
rs762518389
1 0.925 0.080 10 87894089 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs786204929
rs786204929
9 0.752 0.200 10 87933144 stop gained G/A;T snv 0.010 1.000 1 2012 2012