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: rs1057519937
rs1057519937
11 0.776 0.200 3 179234285 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519940
rs1057519940
13 0.752 0.200 3 179218308 missense variant G/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519975
rs1057519975
34 0.649 0.480 17 7675209 missense variant A/C;G;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: rs1057519978
rs1057519978
12 0.763 0.360 17 7675191 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519981
rs1057519981
22 0.689 0.440 17 7674251 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519983
rs1057519983
16 0.724 0.360 17 7673797 missense variant A/G 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: rs1057519986
rs1057519986
10 0.776 0.240 17 7673811 missense variant A/C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519987
rs1057519987
10 0.776 0.280 17 7673810 missense variant A/C 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: 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: rs1057519995
rs1057519995
9 0.807 0.240 17 7674200 missense variant T/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519996
rs1057519996
19 0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057520002
rs1057520002
20 0.695 0.360 17 7674242 missense variant A/C;G 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: rs1057520004
rs1057520004
12 0.752 0.240 17 7674884 missense variant A/C;T 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: rs1057520007
rs1057520007
21 0.701 0.440 17 7674917 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.020 1.000 2 2005 2009
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 21 2011 2019
dbSNP: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.020 1.000 2 2016 2019
dbSNP: rs113994087
rs113994087
ALK
12 0.827 0.120 2 29209798 missense variant C/A;T snv 0.700 1.000 1 2011 2011