Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852768
rs137852768
CUI: C3150898
Disease: CARDIOMYOPATHY, DILATED, 1GG
CARDIOMYOPATHY, DILATED, 1GG
0.800 GeneticVariation UNIPROT Familial neonatal isolated cardiomyopathy caused by a mutation in the flavoprotein subunit of succinate dehydrogenase. 20551992

2010

dbSNP: rs137852768
rs137852768
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency
0.800 GeneticVariation UNIPROT

dbSNP: rs387906780
rs387906780
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5
0.800 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014

dbSNP: rs387906780
rs387906780
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5
0.800 GeneticVariation UNIPROT SDHA is a tumor suppressor gene causing paraganglioma. 20484225

2010

dbSNP: rs137852767
rs137852767
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 GeneticVariation UNIPROT SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. 24781757

2015

dbSNP: rs137852767
rs137852767
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 GeneticVariation UNIPROT Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome. 10746566

2000

dbSNP: rs137852767
rs137852767
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 GeneticVariation UNIPROT Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. 7550341

1995

dbSNP: rs9809219
rs9809219
CUI: C0023264
Disease: Leigh Disease
Leigh Disease
0.700 GeneticVariation UNIPROT