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: rs1554890348
rs1554890348
1 1.000 0.080 10 87864506 stop gained A/T snv 0.700 0
dbSNP: rs1554893808
rs1554893808
2 1.000 0.080 10 87894072 stop gained G/A;T snv 0.700 0
dbSNP: rs1554898206
rs1554898206
1 1.000 0.080 10 87933224 stop gained T/A snv 0.700 0
dbSNP: rs190070312
rs190070312
1 1.000 0.080 10 87957938 stop gained C/G;T snv 6.8E-05 5.6E-05 0.700 0
dbSNP: rs587781255
rs587781255
1 1.000 0.080 10 87933138 stop gained G/A;T snv 0.700 0
dbSNP: rs606231170
rs606231170
2 0.925 0.080 10 87952189 stop gained T/A snv 0.700 0
dbSNP: rs765433422
rs765433422
7 0.807 0.160 10 87952250 stop gained G/A;T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs773176120
rs773176120
1 1.000 0.080 10 87925552 stop gained C/G;T snv 1.3E-05 0.700 0
dbSNP: rs786201867
rs786201867
2 1.000 0.080 10 87952147 stop gained T/A;C;G snv 0.700 0
dbSNP: rs786202004
rs786202004
2 1.000 0.080 10 87961056 stop gained A/T snv 0.700 0
dbSNP: rs786202918
rs786202918
6 0.925 0.080 10 87957951 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs786204875
rs786204875
4 0.882 0.120 10 87960913 stop gained G/A;T snv 0.700 0
dbSNP: rs786204910
rs786204910
2 1.000 0.080 10 87864518 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs786204933
rs786204933
1 1.000 0.080 10 87933196 stop gained T/A;G snv 0.700 0
dbSNP: rs863224909
rs863224909
14 0.732 0.360 10 87960952 stop gained C/A;G snv 0.700 0
dbSNP: rs864622387
rs864622387
1 1.000 0.080 10 87961074 stop gained -/TAAAGACAAA delins 0.700 0
dbSNP: rs876661058
rs876661058
1 1.000 0.080 10 87961037 stop gained T/A;G snv 0.700 0
dbSNP: rs878853944
rs878853944
1 1.000 0.080 10 87960969 stop gained G/T snv 0.700 0
dbSNP: rs121909229
rs121909229
23 0.683 0.400 10 87933148 missense variant G/A;C;T snv 0.700 1.000 18 1998 2015
dbSNP: rs398123317
rs398123317
8 0.790 0.160 10 87925550 missense variant T/A;C;G snv 0.700 1.000 13 1998 2015
dbSNP: rs121913294
rs121913294
14 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 10 1998 2017
dbSNP: rs587782350
rs587782350
9 0.776 0.160 10 87957955 missense variant C/T snv 0.700 1.000 10 1999 2017
dbSNP: rs121909238
rs121909238
2 0.925 0.240 10 87933037 missense variant A/C;G snv 0.700 1.000 9 2005 2018
dbSNP: rs121909241
rs121909241
8 0.790 0.160 10 87933154 missense variant G/A;T snv 0.700 1.000 9 2006 2017
dbSNP: rs1060500126
rs1060500126
8 0.790 0.160 10 87933223 missense variant A/C;G snv 0.700 1.000 8 2000 2016