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: rs3219493
rs3219493
3 0.882 0.120 1 45330597 intron variant G/C snv 0.92 0.93 0.010 1.000 1 2016 2016
dbSNP: rs833052
rs833052
5 0.827 0.160 6 43755598 intergenic variant A/C snv 0.88 0.040 1.000 4 2007 2019
dbSNP: rs2854509
rs2854509
6 0.807 0.160 19 43570445 intron variant T/G snv 0.80 0.010 1.000 1 2015 2015
dbSNP: rs3757441
rs3757441
12 0.752 0.200 7 148827660 intron variant C/T snv 0.80 0.010 1.000 1 2016 2016
dbSNP: rs798766
rs798766
6 0.851 0.120 4 1732512 intron variant T/C snv 0.76 0.770 0.889 9 2010 2017
dbSNP: rs4957014
rs4957014
11 0.752 0.160 5 287899 intron variant T/G snv 0.74 0.010 1.000 1 2014 2014
dbSNP: rs4969054
rs4969054
3 0.882 0.120 17 73016334 intron variant G/C snv 0.73 0.010 1.000 1 2015 2015
dbSNP: rs887569
rs887569
5 0.882 0.120 7 148808210 intron variant C/T snv 0.73 0.010 1.000 1 2016 2016
dbSNP: rs2157719
rs2157719
17 0.708 0.360 9 22033367 non coding transcript exon variant C/T snv 0.71 0.010 1.000 1 2014 2014
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.615 13 2004 2016
dbSNP: rs1495741
rs1495741
9 0.827 0.240 8 18415371 regulatory region variant G/A snv 0.71 0.720 1.000 4 2010 2016
dbSNP: rs2910164
rs2910164
193 0.447 0.880 5 160485411 mature miRNA variant C/G snv 0.71; 4.1E-06 0.70 0.050 1.000 5 2012 2018
dbSNP: rs2070744
rs2070744
54 0.608 0.680 7 150992991 intron variant C/T snv 0.70 0.010 1.000 1 2011 2011
dbSNP: rs1805105
rs1805105
11 0.776 0.280 16 346264 synonymous variant A/G snv 0.61 0.69 0.010 1.000 1 2019 2019
dbSNP: rs11077654
rs11077654
3 0.882 0.120 17 73010373 intron variant A/C snv 0.69 0.010 1.000 1 2015 2015
dbSNP: rs2010963
rs2010963
82 0.542 0.840 6 43770613 5 prime UTR variant C/G snv 0.68 0.010 1.000 1 2017 2017
dbSNP: rs762551
rs762551
23 0.701 0.400 15 74749576 intron variant C/A snv 0.67 0.030 1.000 3 2015 2016
dbSNP: rs7003908
rs7003908
16 0.716 0.320 8 47858141 intron variant C/A snv 0.66 0.010 1.000 1 2010 2010
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.100 1.000 11 2005 2016
dbSNP: rs861530
rs861530
13 0.732 0.320 14 103707786 3 prime UTR variant T/C snv 0.65 0.010 1.000 1 2016 2016
dbSNP: rs1883965
rs1883965
8 0.807 0.160 1 11262099 intron variant A/G snv 0.63 0.010 1.000 1 2018 2018
dbSNP: rs10775480
rs10775480
3 0.882 0.120 18 45737317 intron variant T/C snv 0.61 0.710 1.000 2 2013 2014
dbSNP: rs7238033
rs7238033
2 0.925 0.120 18 45737001 intron variant T/C snv 0.61 0.700 1.000 1 2011 2011
dbSNP: rs3213255
rs3213255
3 0.882 0.120 19 43573355 intron variant G/A snv 0.60 0.010 1.000 1 2015 2015
dbSNP: rs3213356
rs3213356
3 0.882 0.120 19 43554087 intron variant C/T snv 0.60 0.010 1.000 1 2016 2016