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: rs1454328441
rs1454328441
6 0.827 0.200 1 155192002 missense variant G/A;T snv 4.6E-06; 9.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs7519667
rs7519667
1 1.000 0.080 1 241722005 intron variant C/T snv 0.78 0.010 1.000 1 2012 2012
dbSNP: rs1045494
rs1045494
3 0.882 0.120 2 201287058 3 prime UTR variant T/C snv 0.10 0.010 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: rs1057519927
rs1057519927
19 0.716 0.240 3 179218295 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10937405
rs10937405
9 0.807 0.080 3 189665394 intron variant C/T snv 0.38 0.010 < 0.001 1 2011 2011
dbSNP: rs121913273
rs121913273
44 0.605 0.440 3 179218294 missense variant G/A;C snv 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: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 1.000 1 2005 2005
dbSNP: rs577715207
rs577715207
8 0.827 0.160 3 189886413 missense variant T/A;C snv 4.0E-06; 4.0E-06 7.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs6790167
rs6790167
5 0.827 0.080 3 189869485 intron variant A/G snv 0.53 0.010 1.000 1 2016 2016
dbSNP: rs876658657
rs876658657
25 0.677 0.280 3 37020356 missense variant A/G snv 4.0E-06 0.010 < 0.001 1 2004 2004
dbSNP: rs121913507
rs121913507
KIT
49 0.614 0.400 4 54733155 missense variant A/T snv 0.010 < 0.001 1 2005 2005
dbSNP: rs121913682
rs121913682
KIT
52 0.605 0.400 4 54733167 missense variant A/G;T snv 0.010 < 0.001 1 2005 2005
dbSNP: rs9308062
rs9308062
1 1.000 0.080 4 163517048 intron variant T/A;C snv 0.700 1.000 1 2017 2017
dbSNP: rs401681
rs401681
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.020 0.500 2 2013 2014
dbSNP: rs312599
rs312599
1 1.000 0.080 5 143998425 intergenic variant C/T snv 0.33 0.010 1.000 1 2017 2017
dbSNP: rs3756668
rs3756668
5 0.925 0.160 5 68300260 3 prime UTR variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs402710
rs402710
18 0.716 0.320 5 1320607 non coding transcript exon variant C/T snv 0.33 0.38 0.010 1.000 1 2011 2011
dbSNP: rs439680
rs439680
3 1.000 0.080 5 109998341 regulatory region variant C/G snv 0.010 < 0.001 1 2011 2011
dbSNP: rs74501188
rs74501188
1 1.000 0.080 5 90931162 5 prime UTR variant G/A snv 0.17 0.700 1.000 1 2017 2017
dbSNP: rs4324798
rs4324798
8 0.790 0.240 6 28808340 intergenic variant G/A snv 7.2E-02 0.020 1.000 2 2010 2011
dbSNP: rs114033761
rs114033761
1 1.000 0.080 6 31093784 regulatory region variant T/C snv 0.700 1.000 1 2017 2017
dbSNP: rs116427960
rs116427960
3 0.925 0.120 6 31351449 intron variant C/G;T snv 0.700 1.000 1 2017 2017