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: rs1057518821
rs1057518821
5 1.000 1 42930671 frameshift variant -/C delins 0.700 0
dbSNP: rs1553948516
rs1553948516
3 0.925 0.120 4 76181009 frameshift variant -/G delins 0.700 0
dbSNP: rs57095329
rs57095329
25 0.677 0.480 5 160467840 intron variant A/G snv 7.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs63750590
rs63750590
10 0.790 0.120 14 73186860 missense variant A/G snv 0.010 1.000 1 2010 2010
dbSNP: rs267607134
rs267607134
4 0.882 0.080 9 129818752 missense variant A/T snv 4.8E-05 1.4E-04 0.010 1.000 1 2014 2014
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: rs773970701
rs773970701
1 12 53309229 missense variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs1178773058
rs1178773058
1 18 12367329 missense variant C/G;T snv 8.0E-06; 1.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs113994095
rs113994095
31 0.701 0.360 15 89327201 missense variant C/T snv 5.1E-04 6.7E-04 0.700 1.000 41 2001 2018
dbSNP: rs1057516085
rs1057516085
8 0.827 0.080 20 63444747 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1057518011
rs1057518011
4 1 1535766 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs201817335
rs201817335
APP
1 21 26051139 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs63751210
rs63751210
5 0.882 0.080 14 73186878 missense variant C/T snv 0.010 1.000 1 2001 2001
dbSNP: rs727502811
rs727502811
6 0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05 0.010 1.000 1 2014 2014
dbSNP: rs397514698
rs397514698
52 0.667 0.400 9 77797577 missense variant C/T snv 0.700 0
dbSNP: rs753635972
rs753635972
15 0.790 0.120 15 79845388 missense variant C/T snv 3.2E-05 2.1E-05 0.700 0
dbSNP: rs587776703
rs587776703
4 0.925 0.040 12 51806642 frameshift variant CT/- del 7.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs1555462347
rs1555462347
34 0.716 0.520 16 8901028 frameshift variant CT/- delins 0.700 0
dbSNP: rs727502818
rs727502818
26 0.790 0.160 11 17772053 missense variant G/A snv 0.710 1.000 1 2018 2018
dbSNP: rs74315408
rs74315408
16 0.752 0.280 20 4699758 missense variant G/A snv 6.4E-05 4.2E-05 0.010 1.000 1 2012 2012
dbSNP: rs757199733
rs757199733
TTN
2 2 178799505 missense variant G/A snv 8.0E-06 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs770684782
rs770684782
3 9 132288268 stop gained G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs771379232
rs771379232
15 0.790 0.120 15 79845338 stop gained G/A snv 2.0E-05 3.5E-05 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