Source: ALL
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: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.020 1.000 2 2010 2016
dbSNP: rs121912532
rs121912532
12 0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2011 2011
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs104894359
rs104894359
5 0.851 0.200 12 25227346 missense variant C/G;T snv 0.010 1.000 1 2001 2001
dbSNP: rs121434569
rs121434569
70 0.581 0.520 7 55181378 missense variant C/T snv 2.8E-05 5.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.020 1.000 2 2010 2016
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.020 0.500 2 2015 2018
dbSNP: rs1363782162
rs1363782162
AR
1 X 67546155 missense variant G/A snv 5.5E-06 0.010 1.000 1 2001 2001
dbSNP: rs750198847
rs750198847
1 14 81143650 missense variant G/A snv 3.6E-05 4.2E-05 0.010 1.000 1 2005 2005
dbSNP: rs2069852
rs2069852
4 0.925 0.080 7 22732641 downstream gene variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs28937584
rs28937584
4 0.925 0.080 14 81143955 missense variant G/A;C snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs375878504
rs375878504
3 1.000 0.080 11 532741 synonymous variant G/A;C snv 8.1E-06 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs386352319
rs386352319
8 0.827 0.080 11 128911724 missense variant G/A;C snv 0.010 1.000 1 2015 2015
dbSNP: rs372043866
rs372043866
18 0.732 0.240 17 39727965 missense variant G/A;C;T snv 3.2E-05; 2.4E-05; 1.2E-05 0.010 < 0.001 1 2015 2015
dbSNP: rs765808222
rs765808222
FGB
1 4 154569614 missense variant G/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs764330550
rs764330550
1 14 81143730 missense variant G/T snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.020 0.500 2 2015 2018
dbSNP: rs121908864
rs121908864
6 0.851 0.120 14 81143416 missense variant T/C;G snv 4.0E-06 0.010 1.000 1 2005 2005
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.020 0.500 2 2015 2018