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: rs10118776
rs10118776
1 1.000 0.080 9 6227418 intron variant G/A snv 0.94 0.700 1.000 1 2017 2017
dbSNP: rs1023835002
rs1023835002
10 0.763 0.280 15 44711547 start lost A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1045494
rs1045494
3 0.882 0.120 2 201287058 3 prime UTR variant T/C snv 0.10 0.010 1.000 1 2016 2016
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.020 1.000 2 2006 2012
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: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.010 1.000 1 2010 2010
dbSNP: rs1057519747
rs1057519747
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519847
rs1057519847
72 0.570 0.560 7 55191821 missense variant CT/AG mnv 0.030 1.000 3 2007 2013
dbSNP: rs1057519848
rs1057519848
72 0.570 0.560 7 55191822 missense variant TG/GT mnv 0.030 1.000 3 2007 2013
dbSNP: rs1057519877
rs1057519877
10 0.763 0.280 15 44711549 start lost G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519879
rs1057519879
10 0.763 0.280 15 44711548 start lost T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519927
rs1057519927
19 0.716 0.240 3 179218295 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519985
rs1057519985
16 0.724 0.360 17 7673763 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519989
rs1057519989
17 0.732 0.240 17 7674233 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519991
rs1057519991
26 0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057520003
rs1057520003
20 0.695 0.320 17 7675996 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520005
rs1057520005
14 0.742 0.360 17 7673800 missense variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520006
rs1057520006
14 0.752 0.240 17 7673799 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10937405
rs10937405
9 0.807 0.080 3 189665394 intron variant C/T snv 0.38 0.010 < 0.001 1 2011 2011
dbSNP: rs1138272
rs1138272
42 0.611 0.600 11 67586108 missense variant C/T snv 5.9E-02 5.5E-02 0.010 1.000 1 2012 2012
dbSNP: rs114033761
rs114033761
1 1.000 0.080 6 31093784 regulatory region variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs11540652
rs11540652
57 0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs11571833
rs11571833
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.710 1.000 2 2017 2018
dbSNP: rs116427960
rs116427960
3 0.925 0.120 6 31351449 intron variant C/G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs117729306
rs117729306
1 1.000 0.080 11 8465623 non coding transcript exon variant T/C snv 7.3E-03 0.700 1.000 1 2017 2017