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: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.100 0.960 25 2004 2016
dbSNP: rs238406
rs238406
23 0.677 0.480 19 45365051 synonymous variant T/G snv 0.58 0.65 0.010 1.000 1 2009 2009
dbSNP: rs2227928
rs2227928
ATR
6 0.851 0.200 3 142562770 missense variant A/G snv 0.55 0.63 0.010 1.000 1 2006 2006
dbSNP: rs11615
rs11615
62 0.572 0.640 19 45420395 synonymous variant A/G snv 0.50 0.55 0.020 1.000 2 2015 2016
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2014 2014
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: 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: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.070 0.857 7 2003 2014
dbSNP: rs2072671
rs2072671
CDA
16 0.752 0.280 1 20589208 missense variant A/C snv 0.28 0.25 0.010 1.000 1 2014 2014
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: rs2066853
rs2066853
AHR
34 0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22 0.010 1.000 1 2004 2004
dbSNP: rs1052133
rs1052133
147 0.476 0.800 3 9757089 missense variant C/G snv 0.27 0.22 0.050 1.000 5 2006 2013
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: 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: rs2308321
rs2308321
29 0.653 0.480 10 129766800 missense variant A/G snv 9.3E-02 8.7E-02 0.010 1.000 1 2005 2005
dbSNP: rs2308327
rs2308327
10 0.790 0.280 10 129766906 missense variant A/G snv 9.4E-02 8.7E-02 0.010 1.000 1 2006 2006
dbSNP: rs1799782
rs1799782
151 0.474 0.800 19 43553422 missense variant G/A snv 9.5E-02 7.0E-02 0.060 1.000 6 2006 2011
dbSNP: rs2237857
rs2237857
2 0.925 0.200 9 35076758 missense variant G/A snv 1.5E-02 3.0E-02 0.010 1.000 1 2006 2006
dbSNP: rs2307486
rs2307486
7 0.790 0.240 14 20456045 missense variant A/G snv 7.4E-03 2.1E-03 0.010 1.000 1 2006 2006
dbSNP: rs121913016
rs121913016
5 0.827 0.160 19 45357368 missense variant G/C snv 1.2E-03 4.4E-04 0.720 1.000 8 1994 2004
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: rs144564120
rs144564120
2 0.925 0.160 19 45352249 missense variant G/C snv 3.1E-04 2.9E-04 0.700 0
dbSNP: rs143810759
rs143810759
6 0.851 0.280 13 108210371 missense variant C/T snv 1.6E-04 2.1E-04 0.020 1.000 2 2010 2012
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: rs587778271
rs587778271
2 0.925 0.160 19 45353296 frameshift variant AA/- delins 2.0E-04 0.700 1.000 3 2001 2016