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: rs7903209
rs7903209
STOX1
1 1.000 0.080 10 68868826 intron variant C/T snv 0.28 0.010 1.000 1 2020 2020
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: 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: 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: rs9406328
rs9406328
THBS2 ; LOC101929523
2 1.000 0.080 6 169234915 splice region variant G/A snv 0.37 0.31 0.010 1.000 1 2008 2008
dbSNP: rs9450607
rs9450607
EYS ; LOC107986608
1 1.000 0.080 6 64025138 intron variant A/G snv 0.32 0.010 1.000 1 2019 2019
dbSNP: rs956730
rs956730
IL1R1
2 0.925 0.120 2 102141656 intron variant G/A snv 0.42 0.010 1.000 1 2019 2019
dbSNP: rs1400328611
rs1400328611
TNF
1 1.000 0.080 6 31575804 frameshift variant AG/- del 0.010 1.000 1 2011 2011