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: rs1060499630
rs1060499630
FH
4 0.882 0.320 1 241513659 stop gained G/A snv 0.700 0
dbSNP: rs121913121
rs121913121
FH
6 0.851 0.320 1 241513661 missense variant T/G snv 0.700 0
dbSNP: rs1182554992
rs1182554992
1 6 151880688 missense variant A/G snv 8.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs1445081098
rs1445081098
17 0.724 0.480 22 19963746 missense variant G/C snv 4.0E-06 0.010 < 0.001 1 2006 2006
dbSNP: rs1899663
rs1899663
22 0.683 0.280 12 53967210 intron variant C/A snv 0.28 0.010 < 0.001 1 2019 2019
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.010 < 0.001 1 2019 2019
dbSNP: rs4759314
rs4759314
31 0.649 0.440 12 53968051 non coding transcript exon variant G/A snv 0.93 0.010 < 0.001 1 2019 2019
dbSNP: rs4680
rs4680
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.050 0.800 5 2007 2017
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.040 1.000 4 2008 2016
dbSNP: rs1056836
rs1056836
58 0.581 0.680 2 38071060 missense variant G/C snv 0.51 0.040 1.000 4 2011 2017
dbSNP: rs2280543
rs2280543
3 0.925 0.080 11 203788 3 prime UTR variant C/T snv 4.7E-02 0.830 1.000 4 2011 2018
dbSNP: rs12484776
rs12484776
2 1.000 22 40256869 intron variant A/G snv 0.19 0.820 1.000 3 2011 2018
dbSNP: rs58415480
rs58415480
2 1.000 6 152241136 intron variant C/G;T snv 0.700 1.000 3 2018 2019
dbSNP: rs78378222
rs78378222
37 0.662 0.360 17 7668434 3 prime UTR variant T/G snv 8.3E-03 0.700 1.000 3 2018 2019
dbSNP: rs10917151
rs10917151
3 0.925 0.040 1 22096228 3 prime UTR variant G/A snv 0.14 0.700 1.000 2 2018 2019
dbSNP: rs117245733
rs117245733
2 1.000 13 40149807 intron variant G/A snv 1.3E-02 0.700 1.000 2 2018 2019
dbSNP: rs149934734
rs149934734
2 1.000 11 108444879 intron variant C/T snv 1.6E-02 0.700 1.000 2 2018 2019
dbSNP: rs16991615
rs16991615
6 0.925 0.080 20 5967581 missense variant G/A snv 4.5E-02 4.2E-02 0.700 1.000 2 2018 2019
dbSNP: rs4247357
rs4247357
1 17 82209113 intron variant G/T snv 0.46 0.710 1.000 2 2012 2016
dbSNP: rs605059
rs605059
15 0.763 0.160 17 42554888 missense variant G/A;C;T snv 0.56; 9.0E-05; 1.4E-05 0.020 1.000 2 2012 2015
dbSNP: rs7907606
rs7907606
8 0.790 0.120 10 103920874 upstream gene variant T/G snv 0.26 0.700 1.000 2 2018 2019
dbSNP: rs7913069
rs7913069
2 1.000 10 103954641 intergenic variant C/T snv 7.0E-02 0.810 1.000 2 2011 2017
dbSNP: rs7986407
rs7986407
4 0.882 0.120 13 40605661 intron variant A/G snv 0.38 0.700 1.000 2 2018 2019
dbSNP: rs10069690
rs10069690
53 0.595 0.560 5 1279675 intron variant C/T snv 0.36 0.700 1.000 1 2018 2018
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.010 1.000 1 2019 2019