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: rs1085308047
rs1085308047
6 0.827 0.160 10 87864509 missense variant A/G snv 0.700 0
dbSNP: rs121909224
rs121909224
41 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 0
dbSNP: rs1554121443
rs1554121443
29 0.742 0.280 6 33438873 stop gained C/T snv 0.700 0
dbSNP: rs1564045331
rs1564045331
XPA
35 0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 0.700 0
dbSNP: rs180177035
rs180177035
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 0
dbSNP: rs778543124
rs778543124
XPA
35 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.100 0.955 22 2004 2019
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.952 21 2004 2019
dbSNP: rs149617956
rs149617956
32 0.672 0.560 3 69964940 missense variant G/A snv 1.4E-03 1.6E-03 0.030 1.000 3 2014 2017
dbSNP: rs121434595
rs121434595
19 0.708 0.320 1 114716124 missense variant C/A;G;T snv 0.020 1.000 2 2014 2017
dbSNP: rs121913227
rs121913227
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.020 1.000 2 2018 2019
dbSNP: rs104894095
rs104894095
6 0.827 0.120 9 21971200 missense variant C/G;T snv 9.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs104894228
rs104894228
48 0.605 0.560 11 534286 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs10754833
rs10754833
4 0.851 0.040 1 236021631 intron variant T/A;C snv 0.010 1.000 1 2011 2011
dbSNP: rs11275300
rs11275300
DTL
2 0.925 0.040 1 212104247 3 prime UTR variant C/G snv 0.010 1.000 1 2019 2019
dbSNP: rs11547328
rs11547328
27 0.701 0.360 12 57751648 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2002 2002
dbSNP: rs121913254
rs121913254
31 0.658 0.440 1 114713909 stop gained G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs121913338
rs121913338
24 0.677 0.400 7 140753354 missense variant T/A;C;G snv 0.010 1.000 1 2004 2004
dbSNP: rs121913535
rs121913535
14 0.742 0.320 12 25245348 missense variant C/A;G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs12203592
rs12203592
38 0.649 0.320 6 396321 intron variant C/T snv 0.10 0.010 1.000 1 2010 2010
dbSNP: rs12203952
rs12203952
3 0.882 0.040 6 62856909 intergenic variant G/A;C;T snv 0.010 1.000 1 2015 2015
dbSNP: rs12913832
rs12913832
15 0.763 0.200 15 28120472 intron variant A/G snv 0.50 0.010 1.000 1 2014 2014
dbSNP: rs1384270958
rs1384270958
1 1.000 0.040 10 121500883 missense variant C/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs1554927408
rs1554927408
12 0.742 0.480 10 121515254 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1805006
rs1805006
8 0.790 0.080 16 89919510 missense variant C/A;G snv 5.2E-03; 4.0E-06 0.010 1.000 1 2007 2007