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: rs1160237842
rs1160237842
2 1.000 0.160 7 151078668 missense variant A/G snv 8.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1180868926
rs1180868926
2 0.925 0.200 3 9757095 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1181005582
rs1181005582
2 0.925 0.200 16 85767 missense variant C/T snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1194327405
rs1194327405
1 1.000 0.160 X 71377774 missense variant G/A snv 1.1E-05 0.010 1.000 1 2009 2009
dbSNP: rs121913021
rs121913021
3 0.882 0.160 19 45352580 missense variant G/A snv 2.8E-05 4.2E-05 0.010 1.000 1 1996 1996
dbSNP: rs121913026
rs121913026
4 0.851 0.400 19 45352235 missense variant G/A snv 2.4E-05 9.1E-05 0.710 1.000 1 1996 1996
dbSNP: rs1225118391
rs1225118391
AGT
2 0.925 0.200 1 230710637 missense variant T/C snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs12917
rs12917
45 0.605 0.480 10 129708019 missense variant C/T snv 0.14 0.14 0.010 1.000 1 2005 2005
dbSNP: rs1298314972
rs1298314972
2 1.000 0.160 7 151079887 missense variant G/A snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1312839452
rs1312839452
1 1.000 0.160 19 54982237 missense variant A/G snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs139002770
rs139002770
2 0.925 0.200 19 45352772 missense variant C/T snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1402607735
rs1402607735
2 0.925 0.160 19 43575436 missense variant T/C snv 4.0E-06 0.010 < 0.001 1 2010 2010
dbSNP: rs1405999227
rs1405999227
3 0.925 0.160 7 55156637 missense variant A/G snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs1408543226
rs1408543226
XPA
6 0.807 0.240 9 97675558 missense variant A/G snv 7.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs1436873982
rs1436873982
2 0.925 0.200 19 43552212 missense variant G/A snv 8.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs144271525
rs144271525
2 0.925 0.200 19 54983044 missense variant C/T snv 1.7E-04 3.4E-04 0.010 1.000 1 2006 2006
dbSNP: rs146084801
rs146084801
2 0.925 0.200 19 54983245 missense variant C/T snv 4.4E-05 1.5E-04 0.010 1.000 1 2006 2006
dbSNP: rs148298598
rs148298598
2 0.925 0.200 14 20457111 missense variant G/A snv 2.3E-04 2.1E-04 0.010 1.000 1 2006 2006
dbSNP: rs148576448
rs148576448
2 0.925 0.200 16 85461 missense variant G/A snv 8.0E-05 8.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.010 1.000 1 2011 2011
dbSNP: rs1799794
rs1799794
12 0.763 0.320 14 103712930 splice region variant T/C snv 0.22 0.010 1.000 1 2014 2014
dbSNP: rs1799966
rs1799966
8 0.807 0.280 17 43071077 missense variant T/A;C snv 5.2E-05; 0.35 0.010 1.000 1 2014 2014
dbSNP: rs1805329
rs1805329
15 0.732 0.400 9 107322047 missense variant C/T snv 0.20 0.16 0.010 1.000 1 2007 2007
dbSNP: rs1805794
rs1805794
NBN
41 0.605 0.600 8 89978251 missense variant C/G snv 0.35 0.31 0.010 1.000 1 2006 2006
dbSNP: rs199475643
rs199475643
PAH
3 0.882 0.240 12 102894894 missense variant T/C snv 8.0E-06 0.010 1.000 1 2006 2006