Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs199474657
TRNL1 ; ND1 ; ND2
0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 15
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 14
rs118192098
TRNK ; COX3 ; COX2 ; ATP6 ; ATP8 ; ND3
0.851 0.200 MT 8344 non coding transcript exon variant A/G snv 5
rs111033319
ATP8 ; COX3 ; COX1 ; ATP6 ; TRNS1 ; COX2
0.851 0.280 MT 7466 non coding transcript exon variant C/-;CC delins 4
rs267606897
CYTB ; ND5
0.882 0.200 MT 13513 missense variant G/A snv 4
rs267606898
CYTB ; ND5
0.851 0.240 MT 13042 missense variant G/A snv 4
rs118192100
ND3 ; TRNK ; ATP8 ; COX2 ; COX3 ; ATP6
0.882 0.200 MT 8363 non coding transcript exon variant G/A snv 4
rs121434453
TRNE ; ND6 ; CYTB
0.882 0.320 MT 14709 non coding transcript exon variant T/C snv 4
rs118192099
ATP6 ; COX3 ; ND3 ; COX2 ; TRNK ; ATP8
0.882 0.200 MT 8356 non coding transcript exon variant T/C snv 3
rs199474817
COX2 ; COX3 ; TRNS1 ; COX1 ; ATP6 ; ATP8
0.882 0.200 MT 7512 non coding transcript exon variant T/C snv 3
rs199474818
COX3 ; COX1 ; ATP6 ; COX2 ; ATP8
0.882 0.320 MT 7445 stop lost A/C;G;T snv 3
rs267606895
CYTB ; ND5
0.882 0.240 MT 13045 missense variant A/C snv 3
rs387906421
CYTB ; TRNE ; ND6
0.925 0.200 MT 14674 non coding transcript exon variant T/C;G snv 3
rs199476122
ND1 ; ND2
0.882 0.280 MT 3697 missense variant G/A snv 3
rs199476144
ND1 ; TRNV
0.925 0.200 MT 1624 non coding transcript exon variant C/T snv 3
rs199474659
TRNL1 ; ND2 ; ND1
0.882 0.200 MT 3256 non coding transcript exon variant C/T snv 3
rs199476132
TRNN ; COX1 ; ND2 ; COX2
0.925 0.200 MT 5728 non coding transcript exon variant T/C snv 3
rs199474701
TRNP ; ND6 ; CYTB
0.925 0.200 MT 15967 non coding transcript exon variant G/A snv 3
rs794726857
ATP6 ; ATP8 ; ND4L ; ND3 ; COX3 ; ND4
0.925 0.200 MT 8969 missense variant G/A snv 2
rs121434468
COX1 ; ND1 ; TRNI ; ND2
0.925 0.200 MT 4284 non coding transcript exon variant G/A snv 2
rs121434458
COX1 ; ND2 ; COX2 ; TRNA
1.000 0.200 MT 5591 non coding transcript exon variant G/A snv 2
rs387906419
COX3 ; COX1 ; COX2 ; TRNS1 ; ATP8 ; ATP6
0.925 0.200 MT 7497 non coding transcript exon variant G/A snv 2
rs267606896
CYTB ; ND5
0.882 0.200 MT 13084 missense variant A/T snv 2
rs587776433
ND1 ; ND2
0.925 0.200 MT 3481 missense variant G/A snv 2
rs199474666
ND1 ; ND2 ; TRNL1
0.925 0.200 MT 3274 non coding transcript exon variant A/G snv 2