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: rs1131691014
rs1131691014
214 0.439 0.800 17 7676154 frameshift variant -/C ins 0.010 1.000 1 2018 2018
dbSNP: rs144848
rs144848
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2006 2006
dbSNP: rs3817444
rs3817444
1 4 55509814 intron variant A/C snv 0.69 0.010 1.000 1 2015 2015
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: rs864309485
rs864309485
2 1.000 8 30846888 stop gained A/C snv 0.700 0
dbSNP: rs777772044
rs777772044
2 1.000 0.160 1 155186160 missense variant A/C;G snv 1.5E-05 0.010 1.000 1 2008 2008
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.100 0.926 27 2003 2019
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: 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
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: rs1136410
rs1136410
70 0.559 0.760 1 226367601 missense variant A/G snv 0.21 0.15 0.010 1.000 1 2014 2014
dbSNP: rs1801260
rs1801260
28 0.695 0.280 4 55435202 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs2227973
rs2227973
1 11 36575763 missense variant A/G snv 0.19 0.13 0.010 1.000 1 2013 2013
dbSNP: rs2282885
rs2282885
AHR
1 7 17305990 intron variant A/G snv 0.27 0.010 1.000 1 2013 2013
dbSNP: rs36069724
rs36069724
2 6 49695854 missense variant A/G snv 1.7E-02 1.3E-02 0.010 1.000 1 2008 2008
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2012 2012
dbSNP: rs61741870
rs61741870
2 1.000 0.040 X 133027727 missense variant A/G snv 2.6E-02 3.4E-02 0.010 1.000 1 2015 2015
dbSNP: rs8069533
rs8069533
1 17 7294314 missense variant A/G snv 0.46 0.48 0.010 1.000 1 2018 2018
dbSNP: rs9340799
rs9340799
62 0.583 0.680 6 151842246 intron variant A/G snv 0.32 0.010 1.000 1 2014 2014
dbSNP: rs937283
rs937283
19 0.716 0.200 12 68808384 5 prime UTR variant A/G snv 0.37 0.010 1.000 1 2012 2012
dbSNP: rs952566855
rs952566855
ATM
1 11 108259068 missense variant A/G snv 7.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs1045642
rs1045642
214 0.456 0.840 7 87509329 synonymous variant A/G;T snv 0.50 0.010 1.000 1 2010 2010
dbSNP: rs141425171
rs141425171
AR
3 1.000 0.160 X 67717574 missense variant A/G;T snv 2.2E-05; 5.5E-06 0.010 1.000 1 2001 2001
dbSNP: rs1550117
rs1550117
11 0.790 0.320 2 25343038 upstream gene variant A/G;T snv 0.010 1.000 1 2017 2017
dbSNP: rs4646903
rs4646903
36 0.630 0.640 15 74719300 downstream gene variant A/G;T snv 0.18 0.010 1.000 1 2019 2019