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: rs121913500
rs121913500
96 0.529 0.600 2 208248388 missense variant C/A;G;T snv 4.0E-06 0.800 0.977 43 2010 2020
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 15 2011 2019
dbSNP: rs7732320
rs7732320
2 0.925 0.040 5 81423306 intron variant C/T snv 0.22 0.800 1.000 1 2012 2012
dbSNP: rs1057519902
rs1057519902
16 0.742 0.160 1 226064451 missense variant G/C snv 0.740 1.000 5 2013 2017
dbSNP: rs28934576
rs28934576
78 0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 0.740 1.000 5 2009 2018
dbSNP: rs2297440
rs2297440
10 0.763 0.080 20 63680946 intron variant T/C snv 0.81 0.730 1.000 5 2010 2018
dbSNP: rs10069690
rs10069690
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.710 1.000 3 2015 2018
dbSNP: rs55705857
rs55705857
16 0.732 0.080 8 129633446 intron variant A/G snv 3.9E-02 0.710 1.000 3 2013 2018
dbSNP: rs121912656
rs121912656
28 0.662 0.560 17 7674229 missense variant C/A;G;T snv 4.0E-06; 4.0E-06 0.710 1.000 2 2012 2016
dbSNP: rs121913343
rs121913343
44 0.611 0.520 17 7673803 missense variant G/A;C;T snv 1.2E-05 0.710 1.000 2 2016 2018
dbSNP: rs121913499
rs121913499
51 0.605 0.520 2 208248389 missense variant G/A;C;T snv 0.710 1.000 2 2011 2016
dbSNP: rs149840192
rs149840192
7 0.807 0.080 7 55154129 missense variant C/A;T snv 0.710 1.000 2 2016 2018
dbSNP: rs760043106
rs760043106
32 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.710 1.000 2 2009 2016
dbSNP: rs3851634
rs3851634
4 0.882 0.040 12 106419124 intron variant T/C snv 0.22 0.710 1.000 1 2015 2015
dbSNP: rs75061358
rs75061358
4 0.882 0.040 7 54848587 intergenic variant T/C;G snv 0.700 1.000 3 2015 2018
dbSNP: rs634537
rs634537
6 0.851 0.080 9 22032153 intron variant T/G snv 0.28 0.700 1.000 2 2017 2018
dbSNP: rs723527
rs723527
4 0.882 0.040 7 55067179 intron variant A/G snv 0.53 0.700 1.000 2 2017 2018
dbSNP: rs78378222
rs78378222
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.700 1.000 2 2017 2018
dbSNP: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs104894229
rs104894229
73 0.564 0.600 11 534289 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs104894230
rs104894230
73 0.564 0.600 11 534288 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519757
rs1057519757
5 0.882 0.120 5 68293310 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519884
rs1057519884
11 0.752 0.240 16 3738616 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519887
rs1057519887
3 0.925 0.040 7 55154128 missense variant GC/AA;AT mnv 0.700 1.000 1 2016 2016
dbSNP: rs1057519888
rs1057519888
3 0.925 0.080 7 55143386 missense variant A/G snv 0.700 1.000 1 2016 2016