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: rs363371
rs363371
5 0.882 0.120 10 117226885 TF binding site variant G/A snv 0.19 0.010 1.000 1 2017 2017
dbSNP: rs3173615
rs3173615
12 0.807 0.200 7 12229791 missense variant C/A;G snv 0.49 0.010 1.000 1 2017 2017
dbSNP: rs1990622
rs1990622
16 0.742 0.200 7 12244161 downstream gene variant A/G snv 0.52 0.010 1.000 1 2017 2017
dbSNP: rs151344517
rs151344517
31 0.742 0.320 18 12337505 missense variant C/T snv 0.700 1.000 1 2010 2010
dbSNP: rs2192970
rs2192970
2 12 13683379 intron variant G/A snv 0.15 0.010 1.000 1 2012 2012
dbSNP: rs10772715
rs10772715
2 12 13885069 intron variant G/A snv 0.39 0.010 1.000 1 2012 2012
dbSNP: rs4606
rs4606
16 0.752 0.120 1 192812042 3 prime UTR variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs1555731819
rs1555731819
26 0.807 0.200 19 35729980 missense variant G/T snv 0.700 0
dbSNP: rs587784347
rs587784347
38 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs200660418
rs200660418
3 1.000 0.040 12 40310449 missense variant C/A;G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs34637584
rs34637584
78 0.583 0.480 12 40340400 missense variant G/A snv 5.3E-04 3.6E-04 0.020 1.000 2 2010 2014
dbSNP: rs63750522
rs63750522
8 0.827 0.120 14 73173644 missense variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs63750687
rs63750687
33 0.752 0.200 14 73217137 missense variant C/A;G;T snv 0.700 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: rs11866328
rs11866328
3 0.925 0.120 16 9768699 intron variant G/T snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs1564045331
rs1564045331
XPA
35 0.716 0.320 9 97687208 inframe deletion ATTCTT/- delins 0.700 0