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: rs730881394
rs730881394
2 0.925 0.320 11 108310222 missense variant C/T snv 4.0E-06 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs1383461329
rs1383461329
2 1.000 0.120 12 123389469 missense variant C/T snv 1.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs773379832
rs773379832
2 0.925 0.320 9 132297011 missense variant A/G snv 1.2E-05 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1057519943
rs1057519943
10 0.790 0.160 12 132676598 missense variant G/C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519944
rs1057519944
5 0.882 0.160 12 132676599 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519958
rs1057519958
4 0.851 0.200 9 134436505 missense variant C/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1800067
rs1800067
17 0.716 0.320 16 13935176 missense variant G/A snv 5.6E-02 5.3E-02 0.010 1.000 1 2008 2008
dbSNP: rs750040814
rs750040814
XPC
5 0.827 0.160 3 14158639 missense variant C/T snv 1.6E-05 5.6E-05 0.010 1.000 1 2008 2008
dbSNP: rs202003805
rs202003805
6 0.827 0.120 7 142750561 missense variant C/T snv 9.0E-05 0.010 1.000 1 2019 2019
dbSNP: rs17107315
rs17107315
40 0.620 0.440 5 147828115 missense variant T/C snv 9.1E-03 8.2E-03 0.010 1.000 1 2004 2004
dbSNP: rs1057519919
rs1057519919
5 0.851 0.160 2 15942195 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs587782703
rs587782703
8 0.807 0.160 1 17053947 splice donor variant C/A;T snv 1.2E-05; 4.1E-06 0.700 0
dbSNP: rs587777790
rs587777790
14 0.732 0.280 3 179199690 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs104886003
rs104886003
71 0.562 0.440 3 179218303 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913274
rs121913274
33 0.645 0.320 3 179218304 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913275
rs121913275
26 0.672 0.320 3 179218305 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519936
rs1057519936
11 0.776 0.200 3 179234284 missense variant A/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519937
rs1057519937
11 0.776 0.200 3 179234285 missense variant T/C snv 0.700 1.000 1 2016 2016
dbSNP: rs121913283
rs121913283
16 0.724 0.440 3 179234286 missense variant G/A;T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs121913281
rs121913281
37 0.623 0.520 3 179234296 missense variant C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs121913279
rs121913279
101 0.526 0.560 3 179234297 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1057519932
rs1057519932
22 0.683 0.320 3 179234298 missense variant T/G snv 0.700 1.000 1 2016 2016
dbSNP: rs764152905
rs764152905
1 1.000 0.120 16 18854890 missense variant T/A;C snv 8.0E-06; 2.4E-05 0.010 1.000 1 2019 2019
dbSNP: rs12051350
rs12051350
1 1.000 0.120 16 18896946 missense variant C/T snv 3.7E-02 1.5E-02 0.010 1.000 1 2019 2019