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: rs1057519747
rs1057519747
23 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.700 1.000 3 2014 2014
dbSNP: rs587782329
rs587782329
23 0.677 0.280 17 7674217 missense variant C/A;G;T snv 0.700 1.000 3 2014 2014
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 < 0.001 2 2012 2016
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.020 < 0.001 2 2012 2016
dbSNP: rs886039484
rs886039484
32 0.641 0.440 17 7674888 missense variant T/C;G snv 0.710 1.000 2 2012 2016
dbSNP: rs1057519975
rs1057519975
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.010 1.000 1 1991 1991
dbSNP: rs1057519977
rs1057519977
13 0.763 0.360 17 7675189 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519978
rs1057519978
12 0.763 0.360 17 7675191 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: rs1057520001
rs1057520001
23 0.677 0.360 17 7674886 missense variant A/C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs1057520003
rs1057520003
20 0.695 0.320 17 7675996 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs121912660
rs121912660
26 0.683 0.240 17 7673781 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs483352695
rs483352695
4 0.882 0.200 17 7674227 missense variant T/A;C;G snv 0.010 1.000 1 1991 1991
dbSNP: rs587781288
rs587781288
16 0.732 0.440 17 7675190 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs587782177
rs587782177
11 0.763 0.200 17 7674887 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs587782529
rs587782529
8 0.851 0.200 17 7670700 missense variant G/A;C snv 0.010 1.000 1 2009 2009
dbSNP: rs760043106
rs760043106
32 0.645 0.440 17 7674947 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs786201057
rs786201057
24 0.677 0.400 17 7675995 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs786201059
rs786201059
20 0.701 0.360 17 7673764 stop gained C/A;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs786201838
rs786201838
24 0.683 0.440 17 7674953 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs876658468
rs876658468
24 0.689 0.440 17 7674954 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs876660821
rs876660821
22 0.689 0.400 17 7675075 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs942158624
rs942158624
19 0.724 0.320 17 7674948 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs967461896
rs967461896
17 0.724 0.240 17 7675086 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121912651
rs121912651
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.710 1.000 4 2010 2016