DNAH6, dynein axonemal heavy chain 6, 1768

N. diseases: 11; N. variants: 5
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs796052053
rs796052053
Entrez Id: 1768;8802
Gene Symbol: DNAH6;SUCLG1
DNAH6;SUCLG1
CUI: C3151476
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) 		A 0.800 CausalMutation CLINVAR Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy. 20453710 2010
dbSNP: rs796052053
rs796052053
Entrez Id: 1768;8802
Gene Symbol: DNAH6;SUCLG1
DNAH6;SUCLG1
CUI: C3151476
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) 		0.800 GeneticVariation UNIPROT
dbSNP: rs1369567672
rs1369567672
Entrez Id: 1768;8802
Gene Symbol: DNAH6;SUCLG1
DNAH6;SUCLG1
CUI: C3151476
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) 		G 0.700 GeneticVariation CLINVAR Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family. 29217198 2018
dbSNP: rs3890771
rs3890771
Entrez Id: 1768
Gene Symbol: DNAH6
DNAH6
CUI: C0410702
Disease:
Adolescent idiopathic scoliosis 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs3890771
rs3890771
Entrez Id: 1768
Gene Symbol: DNAH6
DNAH6
CUI: C1837461
Disease:
SCOLIOSIS, ISOLATED, SUSCEPTIBILITY TO, 3 		0.700 GeneticVariation GWASCAT The coexistence of copy number variations (CNVs) and single nucleotide polymorphisms (SNPs) at a locus can result in distorted calculations of the significance in associating SNPs to disease. 30019117 2018
dbSNP: rs1918690
rs1918690
Entrez Id: 1768
Gene Symbol: DNAH6
DNAH6
CUI: C0848558
Disease:
Hypospadias 		T 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify variants in developmental genes associated with hypospadias. 25108383 2014
dbSNP: rs1369567672
rs1369567672
Entrez Id: 1768;8802
Gene Symbol: DNAH6;SUCLG1
DNAH6;SUCLG1
CUI: C3151476
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) 		G 0.700 GeneticVariation CLINVAR Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene. 21639866 2011
dbSNP: rs1369567672
rs1369567672
Entrez Id: 1768;8802
Gene Symbol: DNAH6;SUCLG1
DNAH6;SUCLG1
CUI: C3151476
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) 		G 0.700 GeneticVariation CLINVAR Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy. 20453710 2010
dbSNP: rs786205871
rs786205871
Entrez Id: 1768;8802
Gene Symbol: DNAH6;SUCLG1
DNAH6;SUCLG1
CUI: C3151476
Disease:
MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA) 		G 0.700 CausalMutation CLINVAR