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: rs398124308
rs398124308
FOXRED1
2 0.925 0.120 11 126275000 frameshift variant -/AGTG delins 0.700 0
dbSNP: rs267606614
rs267606614
ATP6 ; COX3 ; ND3 ; ND4 ; ND4L
2 0.925 0.120 MT 9531 frameshift variant -/C delins 0.700 1.000 1 2000 2000
dbSNP: rs1410388157
rs1410388157
SURF1 ; SURF2
1 1.000 0.120 9 133356415 frameshift variant -/GCAGCCC delins 0.700 0
dbSNP: rs199474672
rs199474672
COX1 ; ND2 ; TRNW
2 0.925 0.160 MT 5537 non coding transcript exon variant -/T ins 0.700 1.000 2 1997 2003
dbSNP: rs1283780488
rs1283780488
NARS2
2 0.925 0.200 11 78469304 stop gained -/T delins 0.010 < 0.001 1 2015 2015
dbSNP: rs1554768246
rs1554768246
SURF1
1 1.000 0.120 9 133352134 frameshift variant -/T delins 0.700 0
dbSNP: rs587776949
rs587776949
NDUFS4
2 0.925 0.120 5 53683152 frameshift variant A/-;AA delins 2.8E-05 0.700 1.000 4 2008 2014
dbSNP: rs121918658
rs121918658
SURF1
2 0.925 0.120 9 133352074 missense variant A/C snv 0.700 1.000 7 1998 2012
dbSNP: rs397514662
rs397514662
COX15 ; CUTC
4 0.882 0.120 10 99716419 missense variant A/C;G snv 1.2E-05 0.710 1.000 3 2004 2016
dbSNP: rs772794204
rs772794204
NDUFS1
1 1.000 0.120 2 206144934 missense variant A/C;G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs587776497
rs587776497
ECHS1 ; MIR3944
2 0.925 0.120 10 133373332 start lost A/C;G snv 1.0E-05 0.700 0
dbSNP: rs565224393
rs565224393
NARS2
3 0.882 0.200 11 78469304 stop gained A/C;G;T snv 4.0E-06; 4.0E-06 0.010 < 0.001 1 2015 2015
dbSNP: rs398122806
rs398122806
SURF1
2 0.925 0.120 9 133352518 missense variant A/G snv 0.700 1.000 7 1998 2012
dbSNP: rs782024654
rs782024654
SURF1 ; SURF2
1 1.000 0.120 9 133354713 missense variant A/G snv 7.0E-06 0.700 1.000 7 1998 2012
dbSNP: rs587776440
rs587776440
CYTB ; ND5
1 1.000 0.120 MT 13514 missense variant A/G snv 0.700 1.000 4 2001 2004
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 1.000 2 1991 1993
dbSNP: rs1352878283
rs1352878283
SCO2 ; NCAPH2
1 1.000 0.120 22 50523639 missense variant A/G snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs199474657
rs199474657
ND1 ; ND2 ; TRNL1
15 0.752 0.360 MT 3243 non coding transcript exon variant A/G snv 0.700 1.000 1 1999 1999
dbSNP: rs764931850
rs764931850
LONP1
3 0.882 0.280 19 5696750 missense variant A/G snv 0.010 < 0.001 1 2018 2018
dbSNP: rs774232299
rs774232299
NDUFS1
1 1.000 0.120 2 206144019 missense variant A/G snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs1319811735
rs1319811735
SURF1
1 1.000 0.120 9 133352493 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1554059248
rs1554059248
NDUFS4
1 1.000 0.120 5 53646231 splice acceptor variant A/G snv 0.700 0
dbSNP: rs28937590
rs28937590
BCS1L ; ZNF142
8 0.807 0.360 2 218661219 missense variant A/G snv 4.7E-04 4.1E-04 0.700 0
dbSNP: rs764276946
rs764276946
NDUFS8 ; MIR4691 ; MIR7113
1 1.000 0.120 11 68033254 missense variant A/G snv 2.1E-05 1.4E-05 0.700 0
dbSNP: rs267606896
rs267606896
CYTB ; ND5
3 0.882 0.200 MT 13084 missense variant A/T snv 0.700 1.000 3 2002 2007