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: rs1555745989
rs1555745989
ATP5F1D
3 0.925 0.040 19 1244118 missense variant T/G snv 0.710 1.000 1 2018 2018
dbSNP: rs867410737
rs867410737
ATP5F1D
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.010 1.000 1 2018 2018
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: 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: 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: rs121908572
rs121908572
BCS1L ; ZNF142
4 0.882 0.280 2 218661283 missense variant C/T snv 0.010 1.000 1 2013 2013
dbSNP: rs28937590
rs28937590
BCS1L ; ZNF142
8 0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04 0.010 1.000 1 2008 2008
dbSNP: rs542343726
rs542343726
BRCA2
1 13 32332532 missense variant T/C snv 8.1E-06 0.010 1.000 1 2010 2010
dbSNP: rs752169833
rs752169833
CHCHD2
3 0.925 0.040 7 56102878 missense variant C/A;T snv 8.0E-06; 5.6E-05 0.010 1.000 1 2019 2019
dbSNP: rs755933881
rs755933881
COQ8A
1 1 226982969 missense variant G/A snv 0.700 0
dbSNP: rs1003624852
rs1003624852
CYC1
1 8 144096675 missense variant C/G;T snv 4.0E-06; 8.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs1131692063
rs1131692063
CYTB ; ND5
2 1.000 0.160 MT 13051 missense variant G/A 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: rs207460001
rs207460001
CYTB ; ND6
2 MT 15197 missense variant T/C snv 0.010 1.000 1 2015 2015
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: 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: rs1556424691
rs1556424691
CYTB ; ND6 ; TRNT
13 0.851 0.200 MT 15923 non coding transcript exon variant A/G snv 0.700 1.000 4 1993 2018
dbSNP: rs387907087
rs387907087
FOXRED1
3 0.925 11 126276476 missense variant C/T snv 2.4E-05 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs370475970
rs370475970
GFER ; NOXO1
1 16 1985996 missense variant C/T snv 3.2E-05 7.7E-05 0.700 1.000 1 2017 2017
dbSNP: rs863224028
rs863224028
GFER ; NOXO1
1 16 1984415 frameshift variant C/- delins 0.700 1.000 1 2017 2017
dbSNP: rs1554042187
rs1554042187
GFM2
1 5 74758878 missense variant T/G snv 0.700 1.000 1 2017 2017
dbSNP: rs746538436
rs746538436
GFM2
1 5 74746138 frameshift variant T/- del 0.700 1.000 1 2017 2017
dbSNP: rs761283105
rs761283105
GFM2
1 5 74747731 missense variant C/T snv 1.6E-05 2.8E-05 0.700 1.000 1 2017 2017