Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs9809219
rs9809219
SDHA
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR SDHA mutation with dominant transmission results in complex II deficiency with ocular, cardiac, and neurologic involvement. 27683074

2017
dbSNP: rs9809219
rs9809219
SDHA
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Inhibition of α-KG-dependent histone and DNA demethylases by fumarate and succinate that are accumulated in mutations of FH and SDH tumor suppressors. 22677546

2012
dbSNP: rs9809219
rs9809219
SDHA
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Structural basis for malfunction in complex II. 22904323

2012
dbSNP: rs9809219
rs9809219
SDHA
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Succinate dehydrogenase is a direct target of sirtuin 3 deacetylase activity. 21858060

2011
dbSNP: rs9809219
rs9809219
SDHA
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Calcium signalling-dependent mitochondrial dysfunction and bioenergetics regulation in respiratory chain Complex II deficiency. 20489732

2010
dbSNP: rs9809219
rs9809219
SDHA
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II. 16798039

2006
dbSNP: rs9809219
rs9809219
SDHA
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Hereditary paraganglioma/pheochromocytoma and inherited succinate dehydrogenase deficiency. 15795514

2005
dbSNP: rs9809219
rs9809219
SDHA
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR A role for mitochondrial enzymes in inherited neoplasia and beyond. 12612654

2003
dbSNP: rs9809219
rs9809219
SDHA
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Survey of human mitochondrial diseases using new genomic/proteomic tools. 11423010

2001
dbSNP: rs9809219
rs9809219
SDHA
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. 7550341

1995