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: rs137854544
rs137854544
10 0.827 0.320 20 45894040 missense variant T/A snv 3.6E-05 4.9E-05 0.700 1.000 3 1996 2014
dbSNP: rs1034395178
rs1034395178
33 0.716 0.480 22 20996071 stop gained C/A;T snv 4.0E-06; 8.0E-06 0.700 1.000 1 2018 2018
dbSNP: rs104894700
rs104894700
2 0.925 0.200 19 50323609 missense variant G/C;T snv 0.010 1.000 1 2010 2010
dbSNP: rs1057516048
rs1057516048
8 0.925 0.200 5 177283796 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs122460151
rs122460151
5 0.851 0.280 X 2958423 missense variant C/G snv 7.1E-05 3.8E-05 0.010 1.000 1 1999 1999
dbSNP: rs1429108797
rs1429108797
1 1.000 0.160 X 63638143 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs202247813
rs202247813
2 1.000 0.160 5 151855144 missense variant C/G snv 0.010 1.000 1 2012 2012
dbSNP: rs28934908
rs28934908
23 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.010 1.000 1 2000 2000
dbSNP: rs760378316
rs760378316
1 1.000 0.160 7 99203201 stop gained G/A snv 3.2E-05 6.3E-05 0.700 1.000 1 2016 2016
dbSNP: rs786200963
rs786200963
6 0.827 0.200 19 13371683 splice region variant C/T snv 0.700 1.000 1 2015 2015
dbSNP: rs794729664
rs794729664
3 0.925 0.240 10 87952170 stop gained T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs797044872
rs797044872
3 0.882 0.200 19 50323685 missense variant C/T snv 0.010 1.000 1 2011 2011
dbSNP: rs104894396
rs104894396
28 0.672 0.400 13 20189511 stop gained C/T snv 5.8E-04 1.1E-04 0.700 0
dbSNP: rs1057519429
rs1057519429
15 0.807 0.240 19 13235666 missense variant C/G;T snv 0.700 0
dbSNP: rs1060505029
rs1060505029
5 0.882 0.240 1 109066220 missense variant A/T snv 0.700 0
dbSNP: rs1060505030
rs1060505030
4 0.882 0.240 1 109075001 missense variant A/G;T snv 0.700 0
dbSNP: rs1064797103
rs1064797103
9 0.827 0.280 8 91078597 missense variant A/G snv 0.700 0
dbSNP: rs1085307845
rs1085307845
21 0.752 0.320 6 79025582 missense variant G/T snv 0.700 0
dbSNP: rs121917929
rs121917929
3 0.925 0.160 2 166046970 missense variant G/A;T snv 0.700 0
dbSNP: rs1239725461
rs1239725461
4 0.851 0.200 15 76702873 stop gained G/A snv 7.0E-06 0.700 0
dbSNP: rs1251778848
rs1251778848
11 0.790 0.400 12 49039277 stop gained G/A snv 0.700 0
dbSNP: rs1554196416
rs1554196416
15 0.851 0.200 6 78958551 stop gained G/A snv 0.700 0
dbSNP: rs1554642022
rs1554642022
8 0.851 0.200 8 143816981 stop gained G/A snv 0.700 0
dbSNP: rs1555055028
rs1555055028
5 0.882 0.160 11 124923996 missense variant G/A snv 0.700 0
dbSNP: rs1555507479
rs1555507479
12 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0