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: rs1789903
rs1789903
ADH1B ; ADH1C
1 1.000 0.080 4 99340884 intron variant C/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs1789924
rs1789924
ADH1C
5 0.925 0.160 4 99353129 upstream gene variant C/G;T snv 0.010 1.000 1 2013 2013
dbSNP: rs3805322
rs3805322
ADH4 ; LOC100507053
2 1.000 0.080 4 99135847 intron variant A/G snv 1.1E-02 0.010 1.000 1 2015 2015
dbSNP: rs1200003171
rs1200003171
AKT1
4 0.882 0.120 14 104775122 missense variant C/A;T snv 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs2494752
rs2494752
AKT1
10 0.790 0.120 14 104797271 upstream gene variant A/G snv 0.85 0.010 1.000 1 2016 2016
dbSNP: rs2304186
rs2304186
AKT2
2 0.925 0.160 19 40233814 3 prime UTR variant G/T snv 0.39 0.010 1.000 1 2016 2016
dbSNP: rs7254617
rs7254617
AKT2
5 0.882 0.120 19 40285605 upstream gene variant G/A;C;T snv 0.010 1.000 1 2016 2016
dbSNP: rs764058037
rs764058037
AKT2
1 1.000 0.080 19 40241984 missense variant C/A;T snv 1.2E-05; 8.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.090 1.000 9 2009 2019
dbSNP: rs201745983
rs201745983
ALDH2
14 0.752 0.200 12 111783219 missense variant G/A snv 6.8E-05 7.7E-05 0.020 1.000 2 2010 2010
dbSNP: rs886205
rs886205
ALDH2
8 0.827 0.360 12 111766623 intron variant A/G snv 0.35 0.010 1.000 1 2011 2011
dbSNP: rs13182402
rs13182402
ALDH7A1
4 0.925 0.160 5 126582456 intron variant A/G snv 0.15 0.010 1.000 1 2014 2014
dbSNP: rs1126667
rs1126667
ALOX12 ; ALOX12-AS1
8 0.776 0.280 17 6999441 missense variant A/G snv 0.60 0.62 0.010 1.000 1 2007 2007
dbSNP: rs1322178
rs1322178
ATG5
1 1.000 0.080 6 106183905 intron variant C/T snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs3804329
rs3804329
ATG5
2 1.000 0.080 6 106238552 intron variant A/G snv 0.15 0.010 1.000 1 2017 2017
dbSNP: rs671116
rs671116
ATG5
1 1.000 0.080 6 106312722 intron variant A/G snv 0.41 0.010 1.000 1 2017 2017
dbSNP: rs664677
rs664677
ATM
8 0.807 0.160 11 108272455 intron variant C/A;T snv 0.65 0.010 1.000 1 2015 2015
dbSNP: rs1642764
rs1642764
ATP1B2
1 1.000 0.080 17 7654516 intron variant C/T snv 0.45 0.700 1.000 1 2014 2014
dbSNP: rs2273535
rs2273535
AURKA
38 0.645 0.360 20 56386485 missense variant A/C;T snv 0.28 0.010 1.000 1 2004 2004
dbSNP: rs1009316
rs1009316
BAX
1 1.000 0.080 19 48955313 non coding transcript exon variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs2279115
rs2279115
BCL2
18 0.724 0.320 18 63319604 5 prime UTR variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs16941
rs16941
BRCA1
7 0.827 0.240 17 43092418 missense variant T/C;G snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs799917
rs799917
BRCA1
18 0.708 0.320 17 43092919 missense variant G/A;C;T snv 0.40; 1.6E-05 0.010 1.000 1 2013 2013
dbSNP: rs11571833
rs11571833
BRCA2
43 0.608 0.360 13 32398489 stop gained A/T snv 6.6E-03 6.0E-03 0.010 1.000 1 2011 2011
dbSNP: rs144848
rs144848
BRCA2
29 0.653 0.440 13 32332592 missense variant A/C snv 0.28 0.23 0.010 1.000 1 2003 2003