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: rs964184
rs964184
47 0.716 0.440 11 116778201 3 prime UTR variant G/C snv 0.82 0.010 1.000 1 2014 2014
dbSNP: rs1290923018
rs1290923018
5 0.851 0.160 11 65570699 missense variant G/A snv 4.0E-06 0.010 1.000 1 2003 2003
dbSNP: rs7210100
rs7210100
2 0.925 0.080 17 49359387 intron variant G/A;C snv 0.710 1.000 2 2011 2015
dbSNP: rs116890317
rs116890317
2 0.925 0.080 17 49321080 intron variant T/A snv 8.1E-03 0.010 1.000 1 2015 2015
dbSNP: rs79670217
rs79670217
2 0.925 0.080 17 49337732 intron variant T/G snv 3.7E-02 0.010 1.000 1 2015 2015
dbSNP: rs77911174
rs77911174
2 0.925 0.080 10 79067076 intron variant A/G snv 5.4E-02 0.010 1.000 1 2019 2019
dbSNP: rs6062509
rs6062509
2 0.925 0.080 20 63731211 intron variant G/T snv 0.76 0.700 1.000 1 2013 2013
dbSNP: rs6763931
rs6763931
4 0.925 0.080 3 141383991 intron variant G/A snv 0.54 0.700 1.000 1 2011 2011
dbSNP: rs6869366
rs6869366
18 0.701 0.280 5 83075927 intron variant T/G snv 9.2E-02 0.010 1.000 1 2013 2013
dbSNP: rs28360071
rs28360071
18 0.708 0.240 5 83142293 intron variant GATGAGGAAACTAACTCTCAGTGGTGTTTA/- delins 0.48 0.020 1.000 2 2011 2013
dbSNP: rs1805377
rs1805377
19 0.689 0.480 5 83353124 splice acceptor variant G/A snv 0.23 0.25 0.010 1.000 1 2013 2013
dbSNP: rs28360317
rs28360317
15 0.716 0.280 5 83323739 intron variant -/CCT delins 0.24 0.010 1.000 1 2011 2011
dbSNP: rs3218536
rs3218536
37 0.620 0.440 7 152648922 missense variant C/G;T snv 4.0E-06; 6.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.900 10 2004 2018
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.040 0.500 4 2007 2014
dbSNP: rs25489
rs25489
78 0.550 0.720 19 43552260 missense variant C/G;T snv 8.5E-06; 7.1E-02 0.030 1.000 3 2007 2015
dbSNP: rs1041258260
rs1041258260
2 0.925 0.080 19 43552170 missense variant C/T snv 8.0E-06 1.4E-05 0.010 1.000 1 2012 2012
dbSNP: rs25490
rs25490
4 0.851 0.120 19 43552189 missense variant T/C snv 7.2E-03 2.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs777272152
rs777272152
2 0.925 0.080 19 43552176 missense variant C/T snv 1.2E-05 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1870134
rs1870134
XPC ; LSM3
5 0.827 0.120 3 14178523 missense variant G/C;T snv 4.2E-02; 8.1E-06 0.010 1.000 1 2017 2017
dbSNP: rs2228001
rs2228001
XPC
60 0.570 0.480 3 14145949 missense variant G/T snv 0.63 0.65 0.050 0.800 5 2007 2019
dbSNP: rs619824
rs619824
2 0.925 0.080 10 102821531 intron variant A/C snv 0.50 0.010 1.000 1 2011 2011
dbSNP: rs684232
rs684232
2 0.925 0.080 17 715725 intron variant T/C snv 0.46 0.700 1.000 1 2013 2013
dbSNP: rs2359612
rs2359612
7 0.851 0.120 16 31092475 intron variant A/G snv 0.66 0.010 1.000 1 2017 2017
dbSNP: rs779805
rs779805
VHL
4 0.851 0.120 3 10141653 5 prime UTR variant G/A;C snv 0.010 1.000 1 2012 2012