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: rs4939827
rs4939827
25 0.708 0.160 18 48927093 intron variant T/A;C snv 0.070 1.000 7 2009 2017
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.060 0.833 6 2008 2017
dbSNP: rs1048943
rs1048943
88 0.533 0.720 15 74720644 missense variant T/A;C;G snv 0.11 5.9E-02 0.060 1.000 6 2008 2017
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.060 1.000 6 2012 2019
dbSNP: rs12953717
rs12953717
18 0.724 0.240 18 48927559 intron variant C/T snv 0.36 0.060 1.000 6 2008 2014
dbSNP: rs17655
rs17655
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.060 0.833 6 2014 2019
dbSNP: rs1800566
rs1800566
59 0.576 0.680 16 69711242 missense variant G/A snv 0.25 0.21 0.060 0.667 6 2006 2014
dbSNP: rs895819
rs895819
46 0.623 0.560 19 13836478 non coding transcript exon variant T/A;C;G snv 0.34 0.38 0.060 0.833 6 2012 2020
dbSNP: rs34612342
rs34612342
32 0.653 0.400 1 45332803 missense variant T/C snv 1.5E-03 1.6E-03 0.050 1.000 5 2002 2011
dbSNP: rs4444235
rs4444235
23 0.701 0.240 14 53944201 downstream gene variant T/C snv 0.43 0.050 1.000 5 2012 2019
dbSNP: rs4986790
rs4986790
223 0.438 0.800 9 117713024 missense variant A/G;T snv 6.1E-02; 4.0E-06 0.050 0.600 5 2006 2014
dbSNP: rs112445441
rs112445441
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.040 1.000 4 2014 2019
dbSNP: rs1130409
rs1130409
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.040 0.750 4 2008 2017
dbSNP: rs1258159645
rs1258159645
37 0.630 0.600 16 69711128 missense variant G/A snv 7.0E-06 0.040 0.750 4 2006 2014
dbSNP: rs1302103336
rs1302103336
12 0.776 0.120 11 125637491 missense variant T/C snv 8.1E-06 0.040 1.000 4 2007 2013
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.040 1.000 4 2005 2015
dbSNP: rs2032582
rs2032582
97 0.538 0.800 7 87531302 missense variant A/C;T snv 0.54; 3.8E-02 0.040 1.000 4 2008 2013
dbSNP: rs2066844
rs2066844
54 0.587 0.520 16 50712015 missense variant C/T snv 2.6E-02 2.9E-02 0.040 0.750 4 2005 2008
dbSNP: rs2066845
rs2066845
46 0.611 0.600 16 50722629 missense variant G/C;T snv 1.1E-02; 2.2E-04 0.040 0.750 4 2005 2008
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.040 0.750 4 2007 2014
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.040 1.000 4 2013 2015
dbSNP: rs266729
rs266729
37 0.637 0.560 3 186841685 upstream gene variant C/A;G;T snv 0.040 0.750 4 2008 2017
dbSNP: rs459552
rs459552
APC
14 0.752 0.320 5 112841059 missense variant T/A;G snv 0.79 0.040 1.000 4 2004 2019
dbSNP: rs4938723
rs4938723
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.040 0.750 4 2014 2018
dbSNP: rs1042821
rs1042821
16 0.732 0.280 2 47783349 missense variant G/A;C;T snv 0.18; 8.6E-06 0.030 0.667 3 2009 2018