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: rs41467651
rs41467651
COX3 ; ND3 ; ND4 ; ND4L
2 0.925 0.080 MT 10310 synonymous variant G/A snv 0.010 1.000 1 2018 2018
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 2013 2013
dbSNP: rs861539
rs861539
KLC1 ; XRCC3
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.080 0.750 8 2004 2015
dbSNP: rs861528
rs861528
XRCC3 ; ZFYVE21
2 0.925 0.080 14 103716661 intron variant C/T snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs2853826
rs2853826
COX3 ; ND3 ; ND4 ; ND4L ; ND5
2 0.925 0.080 MT 10398 missense variant A/G snv 0.010 1.000 1 2018 2018
dbSNP: rs28358278
rs28358278
COX3 ; ND3 ; ND4 ; ND4L ; ND5
2 0.925 0.080 MT 10400 synonymous variant C/T snv 0.010 1.000 1 2018 2018
dbSNP: rs12615966
rs12615966 		3 0.882 0.080 2 104762499 upstream gene variant C/T snv 0.14 0.010 1.000 1 2017 2017
dbSNP: rs1130233
rs1130233
AKT1
13 0.742 0.480 14 104773557 synonymous variant C/T snv 0.30 0.23 0.010 1.000 1 2015 2015
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: rs111638916
rs111638916
PSMD10
3 0.925 0.080 X 108084839 3 prime UTR variant G/A snv 0.010 1.000 1 2015 2015
dbSNP: rs4444903
rs4444903
EGF
35 0.630 0.360 4 109912954 5 prime UTR variant A/G snv 0.51 0.010 1.000 1 2005 2005
dbSNP: rs1279599
rs1279599
AMD1
2 0.925 0.080 6 110879025 intron variant G/A snv 0.87 0.010 1.000 1 2015 2015
dbSNP: rs7768897
rs7768897
AMD1
2 0.925 0.080 6 110891080 non coding transcript exon variant A/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs4938723
rs4938723
BTG4 ; MIR34B ; MIR34C ; LOC728196
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.040 0.750 4 2014 2019
dbSNP: rs201745983
rs201745983
ALDH2
14 0.752 0.200 12 111783219 missense variant G/A snv 6.8E-05 7.7E-05 0.010 < 0.001 1 2016 2016
dbSNP: rs671
rs671
ALDH2
116 0.529 0.840 12 111803962 missense variant G/A snv 1.9E-02 5.8E-03 0.070 1.000 7 2013 2018
dbSNP: rs16941667
rs16941667
ALDH2
2 0.925 0.080 12 111806609 intron variant C/T snv 8.6E-02 0.010 1.000 1 2012 2012
dbSNP: rs2074356
rs2074356
HECTD4
18 0.763 0.280 12 112207597 intron variant G/A snv 3.8E-03 0.010 1.000 1 2015 2015
dbSNP: rs1064261
rs1064261
MTOR
3 0.925 0.080 1 11228701 missense variant G/A;T snv 0.75; 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs11066280
rs11066280
HECTD4
27 0.742 0.280 12 112379979 intron variant T/A snv 7.0E-03 0.010 1.000 1 2015 2015
dbSNP: rs2301756
rs2301756
PTPN11
4 0.851 0.120 12 112452972 intron variant A/G snv 0.21 0.020 0.500 2 2009 2016
dbSNP: rs6968084
rs6968084
IFRD1
2 0.925 0.080 7 112457066 missense variant C/T snv 0.17 0.16 0.010 1.000 1 2014 2014
dbSNP: rs3807213
rs3807213
IFRD1
3 0.882 0.200 7 112465699 intron variant G/T snv 0.57 0.010 1.000 1 2014 2014
dbSNP: rs12229892
rs12229892
PTPN11
6 0.807 0.240 12 112485589 intron variant G/A snv 1.4E-02 0.020 1.000 2 2013 2016
dbSNP: rs2295080
rs2295080
MTOR
20 0.695 0.320 1 11262571 upstream gene variant G/C;T snv 0.020 1.000 2 2013 2019