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: rs1131692037
rs1131692037
NME3 ; MRPS34 ; EME2
2 0.925 0.120 16 1773083 stop gained C/A;T snv 0.700 0
dbSNP: rs121908576
rs121908576
BCS1L ; ZNF142
4 0.851 0.360 2 218661153 stop gained C/T snv 1.7E-04 2.9E-04 0.700 0
dbSNP: rs1267554976
rs1267554976
NDUFS8
1 1.000 0.120 11 68036321 start lost G/A;C snv 3.5E-05 0.700 0
dbSNP: rs1319811735
rs1319811735
SURF1
1 1.000 0.120 9 133352493 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1391748504
rs1391748504
SURF1
1 1.000 0.120 9 133352143 splice acceptor variant C/G snv 7.0E-06 0.700 0
dbSNP: rs1410388157
rs1410388157
SURF1 ; SURF2
1 1.000 0.120 9 133356415 frameshift variant -/GCAGCCC delins 0.700 0
dbSNP: rs142441643
rs142441643
SDHA
15 0.732 0.320 5 223509 stop gained C/T snv 2.0E-04 2.4E-04 0.700 0
dbSNP: rs1554059248
rs1554059248
NDUFS4
1 1.000 0.120 5 53646231 splice acceptor variant A/G snv 0.700 0
dbSNP: rs1554062427
rs1554062427
NDUFS4
1 1.000 0.120 5 53683163 frameshift variant CC/- del 0.700 0
dbSNP: rs1554768246
rs1554768246
SURF1
1 1.000 0.120 9 133352134 frameshift variant -/T delins 0.700 0
dbSNP: rs1554768333
rs1554768333
SURF1
1 1.000 0.120 9 133352565 frameshift variant CT/- delins 0.700 0
dbSNP: rs1564349087
rs1564349087
SURF1
2 1.000 0.120 9 133353760 stop gained G/T snv 0.700 0
dbSNP: rs267606889
rs267606889
COX1 ; ND1 ; ND2
2 0.925 0.120 MT 4681 missense variant T/C 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: rs28939679
rs28939679
NDUFS8 ; MIR4691 ; MIR7113
2 0.925 0.120 11 68033147 missense variant C/T snv 8.1E-06 0.700 0
dbSNP: rs398124308
rs398124308
FOXRED1
2 0.925 0.120 11 126275000 frameshift variant -/AGTG delins 0.700 0
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: rs587776498
rs587776498
ECHS1 ; MIR3944
2 0.925 0.120 10 133373329 missense variant G/A;C snv 1.0E-05 0.700 0
dbSNP: rs762620949
rs762620949
NDUFAF6
1 1.000 0.120 8 95048461 missense variant G/A;T snv 4.0E-06 7.0E-06 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: rs782609482
rs782609482
SURF1
4 1.000 0.120 9 133352060 splice donor variant C/A;T snv 4.1E-06 0.700 0
dbSNP: rs9809219
rs9809219
SDHA
3 0.925 0.120 5 251100 missense variant C/T snv 4.0E-05 1.4E-05 0.700 0
dbSNP: rs1161932777
rs1161932777
NME3 ; MRPS34 ; EME2
2 0.925 0.120 16 1772798 splice donor variant C/A snv 7.0E-06 0.700 1.000 1 1986 1986
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: rs121909366
rs121909366
GHR
3 0.925 0.200 5 42699892 missense variant G/C snv 1.2E-05 0.010 1.000 1 1997 1997