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: rs1555565492
rs1555565492
18 0.776 0.160 17 17795417 frameshift variant -/G delins 0.700 0
dbSNP: rs730882198
rs730882198
6 0.851 0.200 13 36314259 frameshift variant -/T delins 1.2E-05 0.700 0
dbSNP: rs63750009
rs63750009
5 0.851 0.120 14 73192760 missense variant A/C;G snv 0.010 1.000 1 2010 2010
dbSNP: rs562740927
rs562740927
1 1.000 0.080 20 3910728 missense variant A/G snv 2.3E-04 4.9E-05 0.010 1.000 1 2018 2018
dbSNP: rs797045055
rs797045055
CYTB ; ND5 ; ND6
2 1.000 0.080 MT 14597 missense variant A/G snv 0.700 1.000 1 2016 2016
dbSNP: rs1553878395
rs1553878395
5 0.925 0.080 4 25127263 splice acceptor variant AAAGATATGGGATTGTGAGGTGTATGCAACAGTCTTTCATTGTAGGCTTCTGACAACTTCTTTATTTGGTTGGACAAATATGAAAACATTTCCT/- delins 0.700 0
dbSNP: rs782316919
rs782316919
9 0.827 0.160 9 133351970 frameshift variant AG/- delins 8.4E-05 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: rs1564045331
rs1564045331
XPA
35 0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 0.700 0
dbSNP: rs1555507479
rs1555507479
12 0.807 0.160 16 56336799 missense variant C/A snv 0.700 0
dbSNP: rs1555745467
rs1555745467
23 0.752 0.240 19 13262771 missense variant C/A snv 0.700 0
dbSNP: rs1057519389
rs1057519389
46 0.695 0.400 10 129957324 missense variant C/A;G;T snv 0.700 1.000 1 2017 2017
dbSNP: rs1043679457
rs1043679457
33 0.752 0.400 5 60927745 intron variant C/A;G;T snv 0.700 0
dbSNP: rs63751243
rs63751243
GRN
4 0.882 0.160 17 44349190 missense variant C/A;T snv 4.0E-06 0.010 1.000 1 2008 2008
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: rs387906686
rs387906686
23 0.742 0.320 2 165310413 missense variant C/A;T snv 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
dbSNP: rs1057518936
rs1057518936
3 0.925 0.120 19 7541025 missense variant C/G snv 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: rs1553630279
rs1553630279
7 0.807 0.160 3 41225049 stop gained C/T snv 0.700 1.000 3 1989 2017
dbSNP: rs2516839
rs2516839
14 0.732 0.320 1 161043331 5 prime UTR variant C/T snv 0.49 0.010 1.000 1 2018 2018
dbSNP: rs61755320
rs61755320
41 0.716 0.520 16 89546737 missense variant C/T snv 2.9E-03 3.5E-03 0.700 1.000 1 2016 2016
dbSNP: rs72547551
rs72547551
5 0.882 0.160 16 89550545 missense variant C/T snv 3.6E-05 1.5E-04 0.700 1.000 1 2016 2016
dbSNP: rs771744744
rs771744744
3 0.925 0.120 12 54182241 missense variant C/T snv 8.0E-06 0.010 1.000 1 2010 2010