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: rs1555526250
rs1555526250
1 17 7675191 frameshift variant -/GGTCT delins 0.700 0
dbSNP: rs587782620
rs587782620
1 17 7675185 missense variant C/A;T snv 0.700 0
dbSNP: rs876659675
rs876659675
7 0.807 0.280 17 7674199 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121912664
rs121912664
7 0.630 0.320 17 7670699 missense variant C/A;G;T snv 1.2E-05 0.710 1.000 0 2013 2013
dbSNP: rs1057519995
rs1057519995
8 0.807 0.240 17 7674200 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs786201419
rs786201419
8 0.790 0.160 17 7675180 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs786203071
rs786203071
8 0.776 0.240 17 7675181 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519987
rs1057519987
9 0.776 0.280 17 7673810 missense variant A/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519997
rs1057519997
9 0.776 0.320 17 7676037 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519986
rs1057519986
10 0.776 0.240 17 7673811 missense variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519988
rs1057519988
10 0.776 0.240 17 7673812 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs886039484
rs886039484
10 0.641 0.440 17 7674888 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520004
rs1057520004
11 0.752 0.240 17 7674884 missense variant A/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520005
rs1057520005
11 0.742 0.360 17 7673800 missense variant C/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs375874539
rs375874539
11 0.732 0.320 17 7674237 missense variant G/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs587780071
rs587780071
11 0.732 0.240 17 7674951 missense variant G/A 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: rs1057519978
rs1057519978
12 0.763 0.360 17 7675191 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519999
rs1057519999
12 0.763 0.160 17 7674247 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520006
rs1057520006
12 0.752 0.240 17 7673799 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs587782289
rs587782289
12 0.752 0.240 17 7674257 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs730882026
rs730882026
12 0.742 0.440 17 7674256 missense variant T/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs765848205
rs765848205
12 0.763 0.240 17 7674253 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs876660807
rs876660807
12 0.763 0.160 17 7674248 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519975
rs1057519975
13 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016