Source: ALL
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: rs10484761
rs10484761 		7 0.807 0.080 6 40834522 intergenic variant T/C snv 0.31 0.010 < 0.001 1 2013 2013
dbSNP: rs1667255
rs1667255 		3 0.925 0.040 18 31607316 intergenic variant A/C;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs6796803
rs6796803 		4 0.925 0.040 3 186746318 intron variant T/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1229984
rs1229984
ADH1B
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.040 1.000 4 2010 2015
dbSNP: rs35385902
rs35385902
ADH1B ; ADH1C
9 0.807 0.240 4 99347122 missense variant C/A;T snv 2.0E-05; 1.1E-03 0.010 1.000 1 2010 2010
dbSNP: rs698
rs698
ADH1B ; ADH1C
20 0.724 0.240 4 99339632 missense variant T/A;C snv 0.35 0.010 1.000 1 2012 2012
dbSNP: rs1573496
rs1573496
ADH7
7 0.827 0.160 4 99428512 missense variant C/G snv 8.5E-02; 4.9E-04 7.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs971074
rs971074
ADH7
3 0.925 0.040 4 99420704 synonymous variant C/T snv 0.12 0.13 0.010 < 0.001 1 2013 2013
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.010 1.000 1 2013 2013
dbSNP: rs4855883
rs4855883
APEH
4 0.851 0.080 3 49673881 upstream gene variant G/A;C snv 0.010 1.000 1 2018 2018
dbSNP: rs1130409
rs1130409
APEX1
72 0.555 0.720 14 20456995 missense variant T/A;C;G snv 4.0E-06; 4.0E-06; 0.42 0.010 1.000 1 2015 2015
dbSNP: rs762384959
rs762384959
APEX1 ; OSGEP
4 0.925 0.040 14 20456680 missense variant G/C snv 8.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs985325188
rs985325188
APEX1 ; OSGEP
4 0.851 0.080 14 20456806 missense variant A/C snv 0.010 1.000 1 2013 2013
dbSNP: rs1183646267
rs1183646267
ATM
2 0.925 0.040 11 108281026 missense variant A/G snv 0.010 1.000 1 2012 2012
dbSNP: rs2240308
rs2240308
AXIN2
18 0.701 0.360 17 65558473 missense variant G/A snv 0.47 0.39 0.010 1.000 1 2006 2006
dbSNP: rs749710704
rs749710704
BHMT ; DMGDH
7 0.790 0.160 5 79119289 missense variant C/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2019 2019
dbSNP: rs1049253
rs1049253
CASP3
4 0.851 0.160 4 184627797 3 prime UTR variant A/G snv 0.13 0.010 1.000 1 2013 2013
dbSNP: rs1045485
rs1045485
CASP8
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.010 < 0.001 1 2010 2010
dbSNP: rs9344
rs9344
CCND1
34 0.653 0.480 11 69648142 splice region variant G/A snv 0.45 0.39 0.010 1.000 1 2013 2013
dbSNP: rs11515
rs11515
CDKN2A ; CDKN2A-DT
6 0.882 0.040 9 21968200 3 prime UTR variant C/A;G snv 4.0E-06; 0.88 0.010 < 0.001 1 2014 2014
dbSNP: rs578776
rs578776
CHRNA3
13 0.742 0.240 15 78596058 3 prime UTR variant G/A snv 0.39 0.010 < 0.001 1 2019 2019
dbSNP: rs16969968
rs16969968
CHRNA5
37 0.653 0.360 15 78590583 missense variant G/A snv 0.26 0.24 0.010 < 0.001 1 2019 2019
dbSNP: rs401681
rs401681
CLPTM1L
42 0.620 0.640 5 1321972 intron variant C/T snv 0.48 0.010 1.000 1 2019 2019