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: rs886205
rs886205
ALDH2
8 0.827 0.360 12 111766623 intron variant A/G snv 0.35 0.010 1.000 1 2018 2018
dbSNP: rs8040868
rs8040868
CHRNA3
17 0.742 0.240 15 78618839 synonymous variant T/C snv 0.35 0.37 0.010 1.000 1 2019 2019
dbSNP: rs17576
rs17576
MMP9
73 0.557 0.760 20 46011586 missense variant A/G snv 0.39 0.36 0.020 1.000 2 2008 2018
dbSNP: rs143383
rs143383
GDF5
17 0.724 0.320 20 35438203 5 prime UTR variant G/A snv 0.47 0.010 1.000 1 2014 2014
dbSNP: rs45437897
rs45437897
MMP9
1 1.000 0.080 20 46011590 synonymous variant C/T snv 2.0E-03 8.0E-04 0.010 1.000 1 2018 2018
dbSNP: rs79845319
rs79845319
MMP9
1 1.000 0.080 20 46010332 intron variant A/C;T snv 2.6E-02 0.010 1.000 1 2018 2018
dbSNP: rs4633
rs4633
COMT ; MIR4761
25 0.695 0.400 22 19962712 synonymous variant C/T snv 0.46 0.45 0.010 1.000 1 2018 2018
dbSNP: rs4680
rs4680
COMT ; MIR4761
249 0.442 0.920 22 19963748 missense variant G/A snv 0.46 0.44 0.010 1.000 1 2012 2012