Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs11065987 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 17
rs1857231 1.000 0.080 10 8919651 intergenic variant G/A snv 0.64 1
rs6499100 1.000 0.080 16 52797550 intergenic variant T/C snv 0.42 1
rs12519770
ADGRV1
1.000 0.080 5 90777460 intron variant A/G snv 0.40 1
rs16939660
ALDH1A2
0.925 0.120 15 58010689 synonymous variant T/C snv 8.4E-03 1.5E-02 2
rs115875978
ALDH1A2
1.000 0.080 15 58010691 missense variant C/A;T snv 5.9E-04; 4.0E-06 1
rs149655951
ALDH1A2
1.000 0.080 15 57992742 missense variant A/G snv 4.0E-06 1
rs1569484126
ATP6 ; COX2 ; COX1 ; ATP8
1.000 0.080 MT 6939 frameshift variant T/- delins 1
rs1569484288
ATP6 ; ND4L ; ND4 ; ND3 ; COX3
1.000 0.080 MT 9273 protein altering variant -/ATC ins 1
rs1569484122
ATP8 ; ATP6 ; COX1 ; COX2
1.000 0.080 MT 6900 frameshift variant A/- delins 1
rs1569484124
ATP8 ; COX2 ; COX1 ; ATP6
0.925 0.080 MT 6925 frameshift variant C/- delins 2
rs653178
ATXN2
0.672 0.600 12 111569952 intron variant C/T snv 0.67 41
rs1800469
B9D2 ; TGFB1
0.547 0.760 19 41354391 intron variant A/G snv 0.69 78
rs181317402
CERS1 ; GDF1
0.925 0.080 19 18896591 5 prime UTR variant A/C snv 2.1E-03 3
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs563655306
CITED2
0.925 0.080 6 139373371 missense variant T/C snv 3.2E-03 2.0E-03 2
rs1569484164
COX2 ; COX1 ; ATP6 ; ATP8 ; COX3
1.000 0.080 MT 7638 frameshift variant A/- delins 1
rs1569484120
COX2 ; COX1 ; ATP8 ; ATP6
1.000 0.080 MT 6887 inframe insertion -/GGG delins 1
rs1569484299
COX3 ; ND4 ; ND4L ; ND3 ; ATP6
1.000 0.080 MT 9429 protein altering variant -/CCC ins 1
rs1057515420
EPHB4
1.000 0.080 7 100819874 missense variant G/A snv 1
rs387906769
GATA4
0.807 0.080 8 11708799 missense variant C/T snv 7.3E-05 4.2E-05 7
rs804280
GATA4
0.882 0.120 8 11755189 intron variant C/A;G snv 6
rs115099192
GATA4
0.827 0.080 8 11758366 missense variant C/A;G snv 5.1E-04; 6.8E-05 5
rs17153694
GATA4
0.851 0.160 8 11730972 intron variant C/T snv 0.12 4
rs56208331
GATA4
0.925 0.080 8 11758419 missense variant G/A;T snv 2.0E-03 4