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: 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
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: rs121909235
rs121909235
8 0.851 0.240 10 87957919 missense variant G/A snv 0.010 1.000 1 2018 2018
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1361241029
rs1361241029
PBK
1 1.000 0.120 8 27828154 start lost T/C snv 2.1E-05 0.010 1.000 1 2019 2019
dbSNP: rs1370376642
rs1370376642
1 1.000 0.120 17 76140095 missense variant G/A snv 0.010 1.000 1 2004 2004
dbSNP: rs138280963
rs138280963
1 1.000 0.120 9 69013990 missense variant C/T snv 4.8E-05 2.0E-04 0.010 1.000 1 2019 2019
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: rs1435047610
rs1435047610
1 1.000 0.120 X 47223642 missense variant G/A snv 9.5E-06 0.010 1.000 1 2019 2019
dbSNP: rs1444669684
rs1444669684
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.010 1.000 1 2007 2007
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: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.010 < 0.001 1 2007 2007
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: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.010 < 0.001 1 2007 2007
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: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.010 1.000 1 2002 2002
dbSNP: rs587778883
rs587778883
7 0.807 0.200 3 37025648 frameshift variant A/- del 0.010 1.000 1 2011 2011
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: 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: rs762846821
rs762846821
57 0.614 0.320 17 7675151 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2007 2007
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: rs770380303
rs770380303
1 1.000 0.120 17 45289251 missense variant C/G snv 8.0E-06 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: rs876658923
rs876658923
3 1.000 0.120 3 36993593 frameshift variant TGAACCG/- delins 0.010 1.000 1 2019 2019
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