Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs2637030
rs2637030
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C4049938
Disease:
Physical Activity Measurement 		G 0.700 GeneticVariation GWASCAT Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. 28448500 2017
dbSNP: rs587776949
rs587776949
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C0023264
Disease:
Leigh Disease 		C 0.700 CausalMutation CLINVAR Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I. 24020637 2014
dbSNP: rs4147743
rs4147743
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C0035227
Disease:
Respiratory Function Tests 		0.700 GeneticVariation GWASDB Genome-wide association studies identify CHRNA5/3 and HTR4 in the development of airflow obstruction. 22837378 2012
dbSNP: rs376281345
rs376281345
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C0023264
Disease:
Leigh Disease 		A 0.700 CausalMutation CLINVAR High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383 2010
dbSNP: rs587776949
rs587776949
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C0023264
Disease:
Leigh Disease 		C 0.700 CausalMutation CLINVAR High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency. 20818383 2010
dbSNP: rs587776949
rs587776949
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C0023264
Disease:
Leigh Disease 		C 0.700 CausalMutation CLINVAR NDUFS4 mutations cause Leigh syndrome with predominant brainstem involvement. 19364667 2009
dbSNP: rs376281345
rs376281345
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C0023264
Disease:
Leigh Disease 		A 0.700 CausalMutation CLINVAR A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family. 19107570 2008
dbSNP: rs587776949
rs587776949
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C0023264
Disease:
Leigh Disease 		C 0.700 CausalMutation CLINVAR A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family. 19107570 2008
dbSNP: rs376281345
rs376281345
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C0023264
Disease:
Leigh Disease 		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
dbSNP: rs104893898
rs104893898
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C1838979
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104893899
rs104893899
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C1838979
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121908985
rs121908985
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C1838979
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1445075330
rs1445075330
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C1838979
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY 		CCAAGT 0.700 CausalMutation CLINVAR
dbSNP: rs1554059248
rs1554059248
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C0023264
Disease:
Leigh Disease 		G 0.700 CausalMutation CLINVAR
dbSNP: rs1554062427
rs1554062427
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C0023264
Disease:
Leigh Disease 		T 0.700 CausalMutation CLINVAR
dbSNP: rs376281345
rs376281345
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C1838979
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY 		A 0.700 CausalMutation CLINVAR
dbSNP: rs587776949
rs587776949
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C1838979
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY 		C 0.700 CausalMutation CLINVAR
dbSNP: rs747359752
rs747359752
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C1838979
Disease:
MITOCHONDRIAL COMPLEX I DEFICIENCY 		0.700 GeneticVariation UNIPROT
dbSNP: rs381575
rs381575
Entrez Id: 4724
Gene Symbol: NDUFS4
NDUFS4
CUI: C0024141
Disease:
Lupus Erythematosus, Systemic 		0.010 GeneticVariation BEFREE In the Gullah, the NADH dehydrogenase NDUFS4 (rs381575; p = 0.0065, OR 2.10, 95% CI 1.23-3.59) and NO synthase gene NOS1 (rs561712; p = 0.0072, OR 0.62, 95% CI 0.44-0.88) were most strongly associated with SLE. 23637325 2013