Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs756421370
MECR
0.807 0.120 1 29200513 splice donor variant -/A delins 1.4E-04 6.3E-05 8
rs1057519286
MECR
0.882 0.080 1 29196234 stop gained A/C;G snv 3
rs886041091
NTRK2
0.807 0.120 9 84751990 missense variant A/G snv 18
rs151103940
OPA1
0.882 0.160 3 193614929 missense variant A/G snv 4.0E-04 1.1E-03 3
rs284489
ZFPM2
0.882 0.080 8 104945792 intron variant A/G snv 0.45 3
rs1177373525
LOC102724808 ; OPA1
0.925 0.080 3 193666331 missense variant A/G snv 1.2E-05 2
rs1231502335
OPA1
1.000 0.080 3 193643579 missense variant A/G snv 4.0E-06 1
rs672601371
KIF1A
0.925 0.080 2 240783791 missense variant A/T snv 4
rs746681765
SLC25A46
0.882 0.080 5 110761543 missense variant C/A;T snv 2.8E-05 3
rs672601366
KIF1A
0.851 0.120 2 240786339 missense variant C/G snv 6
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs387906930
WFS1
0.790 0.360 4 6301846 missense variant C/G;T snv 8
rs28939714
NDUFS3
0.882 0.160 11 47582140 missense variant C/G;T snv 4.0E-06 3
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs2157719
CDKN2B-AS1
0.708 0.360 9 22033367 non coding transcript exon variant C/T snv 0.71 17
rs672601369
KIF1A
0.790 0.120 2 240783780 missense variant C/T snv 10
rs374997012
TWNK ; MRPL43
0.851 0.280 10 100989114 missense variant C/T snv 8.0E-06 7.0E-06 9
rs1057517686
ATAD3A
0.827 0.120 1 1529299 missense variant C/T snv 7
rs1555303073
COL4A1
0.851 0.120 13 110176912 missense variant C/T snv 6
rs672601363
KIF1A
0.851 0.080 2 240788109 missense variant C/T snv 6
rs119103265
MFN2
0.827 0.120 1 12002033 missense variant C/T snv 5
rs201754030
TSFM
0.925 0.200 12 57796461 stop gained C/T snv 1.5E-03 1.3E-03 5
rs104894270
NDUFS3
0.882 0.160 11 47582436 missense variant C/T snv 1.6E-05 2.8E-05 3
rs730882240
PIGQ
1.000 0.080 16 574693 stop gained C/T snv 2.1E-05 3
rs762913101
MECR
0.882 0.080 1 29202004 missense variant C/T snv 7.2E-05 2.1E-05 3