Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1023075742
rs1023075742
NDUFA6 ; SMDT1 ; NDUFA6-DT
2 1.000 22 42090742 start lost C/T snv 4.0E-06 2.1E-05 0.700 0
dbSNP: rs1131692061
rs1131692061
ND4 ; ND5 ; TRNL2
1 MT 12271 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs1131692062
rs1131692062
ND4 ; ND5 ; TRNL2
1 MT 12283 non coding transcript exon variant G/A snv 0.700 0
dbSNP: rs1131692063
rs1131692063
CYTB ; ND5
2 1.000 0.160 MT 13051 missense variant G/A snv 0.700 0
dbSNP: rs1131692064
rs1131692064
ATP6 ; ATP8 ; COX2 ; COX3
1 MT 7989 missense variant T/C snv 0.700 0
dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
5 0.851 0.200 MT 8344 non coding transcript exon variant A/G snv 0.700 0
dbSNP: rs121434453
rs121434453
CYTB ; ND6 ; TRNE
4 0.882 0.320 MT 14709 non coding transcript exon variant T/C snv 0.700 0
dbSNP: rs1556423547
rs1556423547
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
2 1.000 0.120 MT 8839 missense variant G/A;C snv 0.700 0
dbSNP: rs1569463838
rs1569463838
NDUFA6 ; SMDT1
2 1.000 22 42086238 frameshift variant CT/- delins 0.700 0
dbSNP: rs199476133
rs199476133
ATP6 ; ATP8 ; COX3 ; ND3 ; ND4 ; ND4L
18 0.742 0.320 MT 8993 missense variant T/C;G snv 0.700 0
dbSNP: rs199476138
rs199476138
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
4 0.882 0.120 MT 9185 missense variant T/C snv 0.700 0
dbSNP: rs267606897
rs267606897
CYTB ; ND5
4 0.882 0.200 MT 13513 missense variant G/A snv 0.700 0
dbSNP: rs2853493
rs2853493
ND4 ; ND5
1 MT 11467 synonymous variant A/G snv 0.700 0
dbSNP: rs2853499
rs2853499
ND4 ; ND5
1 MT 12372 synonymous variant G/A snv 0.700 0
dbSNP: rs387906421
rs387906421
CYTB ; ND6 ; TRNE
3 0.925 0.200 MT 14674 non coding transcript exon variant T/C;G snv 0.700 0
dbSNP: rs750830935
rs750830935
NDUFA6 ; SMDT1
2 1.000 22 42087124 missense variant C/G;T snv 1.1E-04 1.4E-05 0.700 0
dbSNP: rs755933881
rs755933881
COQ8A
1 1 226982969 missense variant G/A snv 0.700 0
dbSNP: rs758833609
rs758833609
NDUFA6 ; SMDT1
2 1.000 22 42086305 stop gained C/A;T snv 8.0E-06; 4.4E-05 0.700 0
dbSNP: rs763006208
rs763006208
NDUFA6 ; SMDT1
2 1.000 22 42086261 frameshift variant A/- delins 1.1E-04 0.700 0
dbSNP: rs781099275
rs781099275
NDUFA6 ; SMDT1
2 1.000 22 42086215 frameshift variant G/- delins 4.0E-06 0.700 0
dbSNP: rs886041081
rs886041081
SLC25A4
4 0.925 4 185144891 missense variant G/A snv 0.700 0
dbSNP: rs886041082
rs886041082
SLC25A4
2 1.000 4 185145863 missense variant C/G snv 0.700 0
dbSNP: rs1555745989
rs1555745989
ATP5F1D
3 0.925 0.040 19 1244118 missense variant T/G snv 0.710 1.000 1 2018 2018
dbSNP: rs111033573
rs111033573
TWNK ; MRPL43
2 1.000 0.200 10 100989285 missense variant G/A;T snv 0.700 1.000 1 2017 2017
dbSNP: rs111033577
rs111033577
TWNK ; MRPL43
2 1.000 0.200 10 100989352 missense variant T/C;G snv 0.700 1.000 1 2017 2017