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: rs121434575
rs121434575
2 0.925 0.240 13 102868152 missense variant T/C snv 0.800 1.000 7 1994 2013
dbSNP: rs267607280
rs267607280
1 1.000 0.160 13 102873283 missense variant G/C snv 0.800 1.000 7 1994 2013
dbSNP: rs267607281
rs267607281
1 1.000 0.160 13 102846349 missense variant C/A snv 0.800 1.000 7 1994 2013
dbSNP: rs121434576
rs121434576
1 1.000 0.160 13 102868199 missense variant G/A snv 2.4E-05 3.5E-05 0.710 1.000 7 1994 2013
dbSNP: rs121434571
rs121434571
1 1.000 0.160 13 102866687 missense variant C/A;T snv 4.0E-06; 2.4E-05 0.700 1.000 7 1994 2013
dbSNP: rs121434574
rs121434574
2 0.925 0.240 13 102852244 missense variant C/A;T snv 4.0E-06 0.700 1.000 7 1994 2013
dbSNP: rs9514067
rs9514067
1 1.000 0.160 13 102875580 stop gained G/C;T snv 1.00; 1.3E-04 0.700 1.000 1 2004 2004
dbSNP: rs121434570
rs121434570
2 0.925 0.160 13 102872397 stop gained G/A;T snv 8.0E-06; 8.0E-06 0.700 0
dbSNP: rs121434577
rs121434577
1 1.000 0.160 13 102854313 stop gained C/G;T snv 0.700 0
dbSNP: rs1244074570
rs1244074570
1 1.000 0.160 13 102866665 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs752661599
rs752661599
1 1.000 0.160 13 102872262 frameshift variant A/-;AA delins 0.700 0
dbSNP: rs786200919
rs786200919
1 1.000 0.160 13 102862263 frameshift variant GGAA/- delins 0.700 0
dbSNP: rs786200920
rs786200920
1 1.000 0.160 13 102862640 frameshift variant A/- delins 0.700 0
dbSNP: rs2094258
rs2094258
20 0.701 0.280 13 102844409 intron variant C/T snv 0.18 0.050 0.800 5 2016 2018
dbSNP: rs17655
rs17655
52 0.597 0.560 13 102875652 missense variant G/C snv 0.28 0.30 0.040 1.000 4 2014 2019
dbSNP: rs2296147
rs2296147
21 0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38 0.040 1.000 4 2016 2017
dbSNP: rs751402
rs751402
15 0.724 0.360 13 102845848 5 prime UTR variant A/G snv 0.76 0.040 0.750 4 2016 2018
dbSNP: rs873601
rs873601
25 0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 0.020 1.000 2 2016 2017
dbSNP: rs1047768
rs1047768
20 0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 0.010 1.000 1 2017 2017
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.010 1.000 1 2007 2007
dbSNP: rs143305574
rs143305574
2 0.925 0.160 10 49517092 missense variant T/A;C snv 8.0E-06; 6.8E-05 0.010 1.000 1 2007 2007
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.010 1.000 1 2009 2009
dbSNP: rs2227869
rs2227869
9 0.790 0.240 13 102862735 missense variant G/A;C snv 4.3E-02 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 0.010 1.000 1 2007 2007
dbSNP: rs2230641
rs2230641
8 0.807 0.240 5 87399457 missense variant A/G;T snv 0.18 0.17 0.010 1.000 1 2007 2007