Source: CURATED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1131692064
ATP8 ; COX2 ; COX3 ; ATP6
MT 7989 missense variant T/C snv 1
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
rs207460001
CYTB ; ND6
MT 15197 missense variant T/C snv 1
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
rs753829320
MFF
1.000 2 227355756 stop gained C/T snv 1
rs1554887028
MRPL43 ; TWNK
10 100989213 missense variant C/A snv 1
rs2853493
ND4 ; ND5
MT 11467 synonymous variant A/G snv 1
rs1131692061
ND4 ; ND5 ; TRNL2
MT 12271 non coding transcript exon variant T/C snv 1
rs1131692062
ND4 ; TRNL2 ; ND5
MT 12283 non coding transcript exon variant G/A snv 1
rs2853499
ND5 ; ND4
MT 12372 synonymous variant G/A snv 1
rs863224028
NOXO1 ; GFER
16 1984415 frameshift variant C/- delins 1
rs1553877864
OPA1
3 193643430 missense variant C/T snv 1
rs772751581
OXA1L
14 22769791 missense variant G/T snv 4.0E-06 1
rs1566433812
OXA1L ; LOC105370404
14 22768050 frameshift variant -/CAGAGCAG delins 1
rs121918046
POLG
0.925 0.160 15 89325520 missense variant G/A snv 1.4E-05 1
rs370863743
RMND1
6 151436526 missense variant G/A;T snv 2.4E-05 1
rs771894262
RMND1
6 151433213 missense variant C/G;T snv 4.0E-06; 4.0E-06 1
rs773470671
RMND1
6 151427481 splice donor variant C/T snv 2.4E-05 1
rs886037771
RMND1
6 151405734 missense variant G/A snv 1
rs886037772
RMND1
6 151436494 stop gained G/A snv 7.0E-06 1
rs886037773
RMND1
6 151405719 splice donor variant C/A;G snv 4.0E-06 1