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: rs10274701
rs10274701
2 0.925 0.080 7 148855364 intron variant C/T snv 0.76 0.010 1.000 1 2015 2015
dbSNP: rs1054135
rs1054135
5 0.851 0.240 8 81478525 3 prime UTR variant C/T snv 0.17 0.010 1.000 1 2016 2016
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.010 1.000 1 2015 2015
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.010 1.000 1 2015 2015
dbSNP: rs1064793184
rs1064793184
4 0.851 0.080 2 47791055 missense variant A/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1064793309
rs1064793309
2 0.925 0.080 17 43063889 missense variant C/T snv 0.010 1.000 1 2012 2012
dbSNP: rs1114167795
rs1114167795
4 0.851 0.080 2 47799482 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs121434568
rs121434568
73 0.568 0.560 7 55191822 missense variant T/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1219648
rs1219648
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs1235679626
rs1235679626
3 0.925 0.080 22 30940834 missense variant C/T snv 1.4E-05 0.010 1.000 1 2018 2018
dbSNP: rs12662670
rs12662670
4 0.851 0.080 6 151597721 intron variant T/C;G snv 0.010 1.000 1 2011 2011
dbSNP: rs13000023
rs13000023
4 0.851 0.080 2 217059671 downstream gene variant G/A;C;T snv 0.19 0.010 1.000 1 2019 2019
dbSNP: rs1360485
rs1360485
16 0.742 0.320 13 30457747 3 prime UTR variant C/T snv 0.58 0.010 1.000 1 2018 2018
dbSNP: rs1412125
rs1412125
17 0.724 0.360 13 30467458 intron variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs1436904
rs1436904
4 0.851 0.080 18 26990703 intron variant T/G snv 0.35 0.010 1.000 1 2017 2017
dbSNP: rs1651654
rs1651654
2 0.925 0.080 16 46822677 intron variant T/C snv 0.79 0.010 1.000 1 2018 2018
dbSNP: rs1801157
rs1801157
46 0.611 0.600 10 44372809 3 prime UTR variant C/T snv 0.16 0.010 1.000 1 2018 2018
dbSNP: rs2046210
rs2046210
21 0.708 0.280 6 151627231 intergenic variant G/A snv 0.41 0.010 1.000 1 2011 2011
dbSNP: rs2077197
rs2077197
2 0.925 0.080 1 226408338 upstream gene variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs2249825
rs2249825
23 0.695 0.440 13 30463766 5 prime UTR variant G/A;C;T snv 0.010 1.000 1 2018 2018
dbSNP: rs2278256
rs2278256
2 0.925 0.080 19 17267350 intron variant T/C snv 0.23 0.010 1.000 1 2016 2016
dbSNP: rs2814778
rs2814778
24 0.763 0.360 1 159204893 5 prime UTR variant T/C snv 0.25 0.010 1.000 1 2019 2019
dbSNP: rs3761548
rs3761548
42 0.620 0.680 X 49261784 intron variant G/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs3803662
rs3803662
25 0.662 0.440 16 52552429 non coding transcript exon variant A/G snv 0.63 0.010 1.000 1 2011 2011
dbSNP: rs397507758
rs397507758
6 0.807 0.200 13 32339456 stop gained C/T snv 0.010 1.000 1 2014 2014