Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1131692037
rs1131692037
NME3 ; MRPS34 ; EME2
T 0.700 GeneticVariation CLINVAR

dbSNP: rs121908576
rs121908576
BCS1L ; ZNF142
T 0.700 CausalMutation CLINVAR

dbSNP: rs1267554976
rs1267554976
NDUFS8
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1319811735
rs1319811735
SURF1
0.700 GeneticVariation UNIPROT

dbSNP: rs1391748504
rs1391748504
SURF1
G 0.700 CausalMutation CLINVAR

dbSNP: rs1410388157
rs1410388157
SURF1 ; SURF2
CGCCCGCA 0.700 CausalMutation CLINVAR

dbSNP: rs142441643
rs142441643
SDHA
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554059248
rs1554059248
NDUFS4
G 0.700 CausalMutation CLINVAR

dbSNP: rs1554062427
rs1554062427
NDUFS4
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554768246
rs1554768246
SURF1
CT 0.700 GeneticVariation CLINVAR

dbSNP: rs1554768333
rs1554768333
SURF1
T 0.700 CausalMutation CLINVAR

dbSNP: rs1554768333
rs1554768333
SURF1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1564349087
rs1564349087
SURF1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs267606889
rs267606889
COX1 ; ND1 ; ND2
C 0.700 CausalMutation CLINVAR

dbSNP: rs28937590
rs28937590
BCS1L ; ZNF142
G 0.700 CausalMutation CLINVAR

dbSNP: rs28939679
rs28939679
NDUFS8 ; MIR4691 ; MIR7113
T 0.700 GeneticVariation CLINVAR

dbSNP: rs398124308
rs398124308
FOXRED1
GGAGT 0.700 CausalMutation CLINVAR

dbSNP: rs587776497
rs587776497
ECHS1 ; MIR3944
C 0.700 GeneticVariation CLINVAR

dbSNP: rs587776498
rs587776498
ECHS1 ; MIR3944
A 0.700 GeneticVariation CLINVAR

dbSNP: rs762620949
rs762620949
NDUFAF6
T 0.700 GeneticVariation CLINVAR

dbSNP: rs764276946
rs764276946
NDUFS8 ; MIR4691 ; MIR7113
G 0.700 GeneticVariation CLINVAR

dbSNP: rs782609482
rs782609482
SURF1
T 0.700 CausalMutation CLINVAR

dbSNP: rs9809219
rs9809219
SDHA
0.700 GeneticVariation UNIPROT

dbSNP: rs118192098
rs118192098
ATP6 ; ATP8 ; COX2 ; COX3 ; ND3 ; TRNK
G 0.700 CausalMutation CLINVAR "Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA (""MERRF mutation"")." 8170567

1993
dbSNP: rs1352878283
rs1352878283
SCO2 ; NCAPH2
0.700 GeneticVariation UNIPROT A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies. 26741492

2016