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: rs1057519975
rs1057519975
34 0.649 0.480 17 7675209 missense variant A/C;G;T snv 0.010 < 0.001 1 2007 2007
dbSNP: rs1131691036
rs1131691036
8 0.851 0.080 17 7675207 frameshift variant GCA/CC delins 0.010 < 0.001 1 2007 2007
dbSNP: rs876659477
rs876659477
3 0.882 0.040 17 7673730 missense variant T/C snv 0.010 1.000 1 2003 2003
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.030 < 0.001 3 2007 2014
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.030 < 0.001 3 2007 2014
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.050 0.400 5 2007 2015
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: 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: 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: rs1057519999
rs1057519999
12 0.763 0.160 17 7674247 missense variant T/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: rs1057520007
rs1057520007
21 0.701 0.440 17 7674917 missense variant T/A;C;G snv 0.700 1.000 1 2016 2016
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: rs121912651
rs121912651
53 0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121912655
rs121912655
15 0.724 0.400 17 7674238 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016