Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 42
rs1555745989
ATP5F1D
0.925 0.040 19 1244118 missense variant T/G snv 2
rs1131692064
ATP8 ; COX2 ; COX3 ; ATP6
MT 7989 missense variant T/C snv 1
rs28937590
BCS1L ; ZNF142
0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04 4
rs752169833
CHCHD2
0.925 0.040 7 56102878 missense variant C/A;T snv 8.0E-06; 5.6E-05 1
rs755933881
COQ8A
1 226982969 missense variant G/A snv 1
rs267606897
CYTB ; ND5
0.882 0.200 MT 13513 missense variant G/A snv 4
rs1131692063
CYTB ; ND5
1.000 0.160 MT 13051 missense variant G/A snv 2
rs207460001
CYTB ; ND6
MT 15197 missense variant T/C snv 1
rs1556424691
CYTB ; ND6 ; TRNT
0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 13
rs387906421
CYTB ; TRNE ; ND6
0.925 0.200 MT 14674 non coding transcript exon variant T/C;G snv 3
rs387907087
FOXRED1
0.925 11 126276476 missense variant C/T snv 2.4E-05 1.4E-05 2
rs370475970
GFER ; NOXO1
16 1985996 missense variant C/T snv 3.2E-05 7.7E-05 1
rs1554042187
GFM2
5 74758878 missense variant T/G snv 1
rs746538436
GFM2
5 74746138 frameshift variant T/- del 1
rs761283105
GFM2
5 74747731 missense variant C/T snv 1.6E-05 2.8E-05 1
rs398124298
LOC102724808 ; OPA1
0.925 0.160 3 193647110 missense variant C/A;G snv 3
rs753829320
MFF
1.000 2 227355756 stop gained C/T snv 1
rs1554887097
MRPL43 ; TWNK
0.807 0.320 10 100989331 missense variant G/A snv 10
rs111033573
MRPL43 ; TWNK
1.000 0.200 10 100989285 missense variant G/A;T snv 2
rs111033577
MRPL43 ; TWNK
1.000 0.200 10 100989352 missense variant T/C;G snv 2
rs28937887
MRPL43 ; TWNK
1.000 10 100989211 missense variant G/A;T snv 2
rs1554887028
MRPL43 ; TWNK
10 100989213 missense variant C/A snv 1
rs199476138
ND3 ; COX3 ; ND4 ; ND4L ; ATP6
0.882 0.120 MT 9185 missense variant T/C snv 4
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 14