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: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.010 < 0.001 1 2015 2015
dbSNP: rs910873
rs910873
3 0.882 0.160 20 34583968 intron variant G/A;C snv 0.010 < 0.001 1 2009 2009
dbSNP: rs13181
rs13181
134 0.487 0.760 19 45351661 stop gained T/A;G snv 4.0E-06; 0.32 0.030 0.667 3 2013 2015
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.030 0.667 3 2010 2016
dbSNP: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.800 1.000 26 2003 2020
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 1.000 24 2003 2020
dbSNP: rs1042522
rs1042522
242 0.426 0.800 17 7676154 missense variant G/C;T snv 0.67 0.070 1.000 7 2010 2019
dbSNP: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.060 1.000 6 2010 2016
dbSNP: rs878854066
rs878854066
213 0.439 0.800 17 7676153 missense variant GG/AC mnv 0.060 1.000 6 2010 2016
dbSNP: rs1353702185
rs1353702185
79 0.550 0.720 12 68839311 missense variant C/G snv 4.0E-06 0.030 1.000 3 2010 2014
dbSNP: rs1805007
rs1805007
25 0.695 0.280 16 89919709 missense variant C/A;G;T snv 4.4E-02 0.030 1.000 3 2009 2019
dbSNP: rs1805008
rs1805008
16 0.732 0.240 16 89919736 missense variant C/T snv 4.7E-02 4.8E-02 0.030 1.000 3 2000 2019
dbSNP: rs1057519874
rs1057519874
9 0.807 0.120 7 6387261 missense variant C/A;T snv 0.710 1.000 2 2014 2016
dbSNP: rs1126809
rs1126809
29 0.683 0.320 11 89284793 missense variant G/A snv 0.18 0.18 0.020 1.000 2 2008 2011
dbSNP: rs121912654
rs121912654
21 0.683 0.400 17 7675143 missense variant C/A;T snv 4.0E-05 0.020 1.000 2 2013 2016
dbSNP: rs121913227
rs121913227
31 0.653 0.320 7 140753336 missense variant AC/CT;TT mnv 0.020 1.000 2 2003 2005
dbSNP: rs121913237
rs121913237
50 0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06 0.710 1.000 2 2013 2016
dbSNP: rs121913366
rs121913366
12 0.763 0.400 7 140753345 missense variant A/C;T snv 0.710 1.000 2 2016 2017
dbSNP: rs12696304
rs12696304
10 0.776 0.320 3 169763483 downstream gene variant C/G snv 0.38 0.700 1.000 2 2015 2018
dbSNP: rs1636744
rs1636744
AHR
4 0.851 0.080 7 16944656 intron variant C/T snv 0.31 0.700 1.000 2 2015 2018
dbSNP: rs1695
rs1695
188 0.457 0.880 11 67585218 missense variant A/G snv 0.34 0.36 0.020 1.000 2 2013 2016
dbSNP: rs1799939
rs1799939
RET
27 0.658 0.280 10 43114671 missense variant G/A;C;T snv 0.21 0.020 1.000 2 2009 2012
dbSNP: rs1805006
rs1805006
8 0.790 0.080 16 89919510 missense variant C/A;G snv 5.2E-03; 4.0E-06 0.020 1.000 2 2001 2008
dbSNP: rs1805009
rs1805009
9 0.790 0.280 16 89920138 missense variant G/A;C snv 4.0E-06; 9.1E-03 0.020 1.000 2 2000 2018
dbSNP: rs25487
rs25487
205 0.441 0.800 19 43551574 missense variant T/C snv 0.68 0.71 0.020 1.000 2 2006 2016