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: rs1555979575
rs1555979575
2 1.000 0.040 X 106928709 missense variant G/C snv 0.700 0
dbSNP: rs1569167515
rs1569167515
4 0.925 0.200 22 37973567 inframe deletion CTGGGGTCAGAGATG/- delins 0.700 0
dbSNP: rs200750564
rs200750564
6 0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs864309485
rs864309485
2 1.000 8 30846888 stop gained A/C snv 0.700 0
dbSNP: rs12348
rs12348
3 0.925 0.040 9 25677217 3 prime UTR variant T/C snv 0.44 0.010 < 0.001 1 2018 2018
dbSNP: rs2631367
rs2631367
4 0.925 0.120 5 132369766 5 prime UTR variant C/G snv 0.59 0.010 < 0.001 1 2015 2015
dbSNP: rs2772579
rs2772579
1 9 24545697 5 prime UTR variant G/C snv 0.25 0.25 0.010 < 0.001 1 2018 2018
dbSNP: rs35033974
rs35033974
1 19 43416460 missense variant G/T snv 8.3E-02 8.3E-02 0.010 < 0.001 1 2019 2019
dbSNP: rs35397110
rs35397110
2 X 133027131 missense variant G/A;T snv 3.8E-02 0.010 < 0.001 1 2008 2008
dbSNP: rs68073206
rs68073206
2 1.000 0.040 2 48721568 3 prime UTR variant A/C snv 0.29 0.010 < 0.001 1 2017 2017
dbSNP: rs775144154
rs775144154
38 0.627 0.600 21 45531904 missense variant C/A;T snv 9.7E-06; 1.4E-05 0.010 < 0.001 1 2010 2010
dbSNP: rs6165
rs6165
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.030 0.333 3 2011 2015
dbSNP: rs6166
rs6166
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.060 0.500 6 2011 2017
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 0.500 2 2017 2018
dbSNP: rs1799945
rs1799945
226 0.452 0.760 6 26090951 missense variant C/G;T snv 0.11 0.10 0.020 0.500 2 2006 2012
dbSNP: rs1800562
rs1800562
262 0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 0.020 0.500 2 2006 2012
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.020 0.500 2 2013 2015
dbSNP: rs184752888
rs184752888
4 0.882 0.120 6 32977847 missense variant G/A snv 0.020 0.500 2 2011 2015
dbSNP: rs2477686
rs2477686
7 0.807 0.040 1 2461209 intron variant G/C snv 0.64 0.020 0.500 2 2014 2019
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 0.500 2 2017 2018
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.060 0.667 6 2014 2019
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.100 0.688 16 2005 2019
dbSNP: rs2066853
rs2066853
AHR
34 0.653 0.600 7 17339486 missense variant G/A snv 0.15 0.22 0.040 0.750 4 2004 2019
dbSNP: rs1799983
rs1799983
246 0.430 0.880 7 150999023 missense variant T/A;G snv 0.75 0.060 0.833 6 2008 2017
dbSNP: rs1805087
rs1805087
MTR
135 0.496 0.800 1 236885200 missense variant A/G snv 0.20 0.21 0.060 0.833 6 2006 2017