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: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.020 1.000 2 2015 2017
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.020 1.000 2 2015 2017
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.020 1.000 2 2015 2017
dbSNP: rs3803662
rs3803662
25 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 0.020 0.500 2 2007 2012
dbSNP: rs1054016
rs1054016
4 0.882 0.160 13 42607866 3 prime UTR variant G/T snv 0.35 0.010 1.000 1 2014 2014
dbSNP: rs1057519695
rs1057519695
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2018 2018
dbSNP: rs1057519834
rs1057519834
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2018 2018
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2018 2018
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 2019 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2018 2018
dbSNP: rs121913530
rs121913530
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.010 1.000 1 2016 2016
dbSNP: rs13387042
rs13387042
16 0.732 0.280 2 217041109 intergenic variant A/G snv 0.44 0.010 < 0.001 1 2007 2007
dbSNP: rs1805034
rs1805034
12 0.742 0.360 18 62360008 missense variant C/T snv 0.54 0.56 0.010 1.000 1 2014 2014
dbSNP: rs187115
rs187115
22 0.695 0.320 11 35154612 intron variant T/C snv 0.37 0.010 1.000 1 2015 2015
dbSNP: rs34945627
rs34945627
3 0.882 0.160 18 62369265 missense variant C/T snv 6.7E-04 2.3E-03 0.010 1.000 1 2016 2016
dbSNP: rs35211496
rs35211496
5 0.851 0.200 18 62354528 missense variant C/T snv 0.12 0.12 0.010 1.000 1 2014 2014
dbSNP: rs754854286
rs754854286
3 1.000 0.120 10 31520432 missense variant G/C snv 0.010 1.000 1 2019 2019