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: rs1057519997
rs1057519997
9 0.776 0.320 17 7676037 missense variant A/C;G;T snv 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: rs786201057
rs786201057
24 0.677 0.400 17 7675995 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs747342068
rs747342068
17 0.695 0.440 17 7675218 missense variant T/C;G snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519996
rs1057519996
16 0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs866775781
rs866775781
17 0.716 0.440 17 7675216 splice acceptor variant C/A;G 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
dbSNP: rs587781991
rs587781991
14 0.724 0.240 17 7675208 missense variant C/A;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: rs1555526250
rs1555526250
1 17 7675191 frameshift variant -/GGTCT delins 0.700 0
dbSNP: rs587781288
rs587781288
15 0.732 0.440 17 7675190 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519977
rs1057519977
13 0.763 0.360 17 7675189 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs587782620
rs587782620
1 17 7675185 missense variant C/A;T snv 0.700 0
dbSNP: rs786203071
rs786203071
8 0.776 0.240 17 7675181 missense variant T/A;G 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: rs28934874
rs28934874
21 0.695 0.480 17 7675161 missense variant G/A;C;T snv 0.710 1.000 1 2014 2016
dbSNP: rs786203436
rs786203436
15 0.701 0.280 17 7675125 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs148924904
rs148924904
17 0.724 0.360 17 7675124 missense variant T/C snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs876660754
rs876660754
18 0.701 0.360 17 7675095 missense variant C/A;T snv 0.710 1.000 1 2016 2017
dbSNP: rs1057519747
rs1057519747
17 0.716 0.280 17 7675094 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs138729528
rs138729528
25 0.677 0.480 17 7675089 missense variant G/A;C snv 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs967461896
rs967461896
16 0.724 0.240 17 7675086 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs786202962
rs786202962
17 0.701 0.320 17 7675085 missense variant C/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs587780070
rs587780070
23 0.683 0.320 17 7675077 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519991
rs1057519991
19 0.662 0.440 17 7675076 missense variant T/A;C;G snv 4.0E-06 0.700 1.000 1 2016 2016