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: rs1043679457
rs1043679457
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs1057518813
rs1057518813
8 0.790 0.240 13 102873305 frameshift variant CT/- delins 0.700 0
dbSNP: rs1057518936
rs1057518936
3 0.925 0.120 19 7541025 missense variant C/G snv 0.700 0
dbSNP: rs1217391623
rs1217391623
11 0.882 0.160 16 89556976 frameshift variant G/- del 7.0E-06 0.700 0
dbSNP: rs1345176461
rs1345176461
40 0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 0.700 0
dbSNP: rs142110773
rs142110773
13 0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 0.700 0
dbSNP: rs1553878395
rs1553878395
5 0.925 0.080 4 25127263 splice acceptor variant AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/- delins 0.700 0
dbSNP: rs1555475794
rs1555475794
7 0.925 0.120 16 682729 3 prime UTR variant T/C snv 0.700 0
dbSNP: rs1555507479
rs1555507479
12 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
dbSNP: rs1555565492
rs1555565492
18 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
dbSNP: rs1555745467
rs1555745467
23 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
dbSNP: rs1561515242
rs1561515242
6 1.000 0.080 5 111482938 splice donor variant G/A snv 0.700 0
dbSNP: rs1561904557
rs1561904557
9 0.851 0.160 5 150056050 missense variant GGAT/TGCC mnv 0.700 0
dbSNP: rs1564045331
rs1564045331
XPA
35 0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 0.700 0
dbSNP: rs181109321
rs181109321
17 0.776 0.320 8 63065904 splice region variant C/A;T snv 2.0E-05 0.700 0
dbSNP: rs374434303
rs374434303
4 0.882 0.200 19 7561509 missense variant C/A;T snv 3.8E-05 0.700 0
dbSNP: rs375817528
rs375817528
25 0.776 0.160 11 65206824 splice region variant G/A snv 1.2E-04 1.2E-04 0.700 0
dbSNP: rs387906686
rs387906686
23 0.742 0.320 2 165310413 missense variant C/A;T snv 0.700 0
dbSNP: rs727502818
rs727502818
26 0.790 0.160 11 17772053 missense variant G/A snv 0.700 0
dbSNP: rs730882198
rs730882198
6 0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 0.700 0
dbSNP: rs768823392
rs768823392
10 0.827 0.120 16 89546657 coding sequence variant GGCGGGAGA/- delins 2.6E-04 4.2E-04 0.700 0
dbSNP: rs770703007
rs770703007
8 0.851 0.120 16 1706450 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs774277300
rs774277300
17 0.742 0.360 11 94447276 stop gained G/A;C;T snv 2.8E-05; 4.0E-05; 4.0E-06 0.700 0
dbSNP: rs778543124
rs778543124
XPA
35 0.716 0.320 9 97675476 frameshift variant AGTCTTACGGTACA/- delins 6.8E-05 6.3E-05 0.700 0
dbSNP: rs781934508
rs781934508
4 1.000 0.080 9 133352441 splice region variant C/A;T snv 2.4E-05 0.700 0