Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs376281345
rs376281345
NDUFS4
A 0.700 CausalMutation CLINVAR High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383

2010
dbSNP: rs376281345
rs376281345
NDUFS4
A 0.700 CausalMutation CLINVAR A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family. 19107570

2008
dbSNP: rs376281345
rs376281345
NDUFS4
A 0.700 CausalMutation CLINVAR Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt -1) in the NDUFS4 gene in Leigh syndrome. 12616398

2003