Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1569484288
ATP6 ; ND4L ; ND4 ; ND3 ; COX3
1.000 0.080 MT 9273 protein altering variant -/ATC ins 1
rs1569484299
COX3 ; ND4 ; ND4L ; ND3 ; ATP6
1.000 0.080 MT 9429 protein altering variant -/CCC ins 1
rs1569484120
COX2 ; COX1 ; ATP8 ; ATP6
1.000 0.080 MT 6887 inframe insertion -/GGG delins 1
rs1569484301
ND4 ; COX3 ; ND3 ; ATP6 ; ND4L
1.000 0.080 MT 9441 inframe insertion -/TTT delins 1
rs1569484042
ND2 ; COX1 ; COX2
1.000 0.080 MT 5954 frameshift variant A/- del 1
rs1569484122
ATP8 ; ATP6 ; COX1 ; COX2
1.000 0.080 MT 6900 frameshift variant A/- delins 1
rs1569484164
COX2 ; COX1 ; ATP6 ; ATP8 ; COX3
1.000 0.080 MT 7638 frameshift variant A/- delins 1
rs181317402
CERS1 ; GDF1
0.925 0.080 19 18896591 5 prime UTR variant A/C snv 2.1E-03 3
rs121908601
ZFPM2
0.851 0.080 8 105419192 missense variant A/C;G snv 4.0E-06; 2.7E-03 4
rs121908603
ZFPM2-AS1 ; ZFPM2
0.882 0.120 8 105802189 missense variant A/C;G snv 4.9E-04; 4.0E-06 3
rs699947
VEGFA
0.570 0.680 6 43768652 upstream gene variant A/C;T snv 67
rs1217691063
MTHFR
0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 614
rs1800469
B9D2 ; TGFB1
0.547 0.760 19 41354391 intron variant A/G snv 0.69 78
rs1570360
VEGFA
0.641 0.680 6 43770093 upstream gene variant A/G snv 0.76 38
rs17696736
NAA25
0.827 0.240 12 112049014 intron variant A/G snv 0.30 18
rs11065987 0.807 0.280 12 111634620 intergenic variant A/G snv 0.29 17
rs11066320
PTPN11
0.925 0.120 12 112468611 intron variant A/G snv 0.70 5
rs12519770
ADGRV1
1.000 0.080 5 90777460 intron variant A/G snv 0.40 1
rs149655951
ALDH1A2
1.000 0.080 15 57992742 missense variant A/G snv 4.0E-06 1
rs2388896
LINC02676
1.000 0.080 10 8912261 intron variant A/G snv 0.64 1
rs28374544
ZFPM2 ; ZFPM2-AS1
1.000 0.080 8 105802051 missense variant A/G snv 1.1E-02 4.4E-02 1
rs288979
ROCK1
1.000 0.080 18 21031282 intron variant A/G snv 0.21 1
rs864622513
GDF1 ; CERS1
1.000 0.080 19 18868791 missense variant A/G snv 1.1E-03 1.1E-04 1
rs1569484124
ATP8 ; COX2 ; COX1 ; ATP6
0.925 0.080 MT 6925 frameshift variant C/- delins 2
rs1185861796
GATA4
1.000 0.080 8 11758339 missense variant C/A snv 8.0E-06 7.0E-06 2