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: rs4919510
rs4919510
SEMA4G ; MRPL43 ; MIR608
32 0.641 0.520 10 100975021 mature miRNA variant C/G snv 0.27 0.27 0.010 1.000 1 2018 2018
dbSNP: rs2094258
rs2094258
ERCC5 ; BIVM-ERCC5
20 0.701 0.280 13 102844409 intron variant C/T snv 0.18 0.010 1.000 1 2012 2012
dbSNP: rs2296147
rs2296147
ERCC5 ; BIVM-ERCC5
21 0.695 0.280 13 102846025 5 prime UTR variant T/C snv 0.38 0.010 1.000 1 2012 2012
dbSNP: rs873601
rs873601
ERCC5 ; BIVM-ERCC5
25 0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 0.020 1.000 2 2012 2016
dbSNP: rs2252070
rs2252070
MMP13
13 0.752 0.320 11 102955810 upstream gene variant C/T snv 0.68 0.010 1.000 1 2016 2016
dbSNP: rs8126
rs8126
TNFAIP2
8 0.807 0.080 14 103137232 3 prime UTR variant C/T snv 0.63 0.010 1.000 1 2014 2014
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: 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: rs9034
rs9034
NAMPT
5 0.827 0.200 7 106249610 3 prime UTR variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs61330082
rs61330082
NAMPT
13 0.732 0.320 7 106286419 upstream gene variant G/A snv 0.22 0.010 1.000 1 2015 2015
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: rs2294750
rs2294750 		1 1.000 0.080 1 10824979 regulatory region variant G/A snv 0.10 0.010 1.000 1 2016 2016
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: rs3787016
rs3787016
POLR2E
24 0.677 0.280 19 1090804 intron variant A/G snv 0.78 0.010 1.000 1 2015 2015
dbSNP: rs3219218
rs3219218
UNG
4 0.851 0.120 12 109100430 intron variant A/G snv 1.9E-02 0.010 < 0.001 1 2014 2014
dbSNP: rs246079
rs246079
UNG
9 0.790 0.120 12 109109255 intron variant A/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2237051
rs2237051
EGF
3 0.925 0.120 4 109980042 missense variant G/A snv 0.46 0.53 0.010 1.000 1 2014 2014
dbSNP: rs2536
rs2536
MTOR
11 0.776 0.240 1 11106656 3 prime UTR variant T/C snv 5.8E-02 0.010 1.000 1 2013 2013
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.060 1.000 6 2013 2019
dbSNP: rs6573
rs6573
RAP1A ; INKA2
1 1.000 0.080 1 111712767 3 prime UTR variant C/A snv 0.12 0.010 1.000 1 2012 2012
dbSNP: rs2399395
rs2399395
PLCXD2
1 1.000 0.080 3 111714647 intron variant T/C snv 0.96 0.010 1.000 1 2019 2019
dbSNP: rs197412
rs197412
DDX20
2 1.000 0.080 1 111766331 missense variant T/C snv 0.43 0.49 0.010 1.000 1 2018 2018
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