Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852768
rs137852768
SDHA
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
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		0.800 GeneticVariation UNIPROT

dbSNP: rs137852768
rs137852768
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		A 0.800 CausalMutation CLINVAR

dbSNP: rs137852768
rs137852768
SDHA
CUI: C3150898
Disease: CARDIOMYOPATHY, DILATED, 1GG
CARDIOMYOPATHY, DILATED, 1GG 		A 0.800 CausalMutation CLINVAR

dbSNP: rs387906780
rs387906780
SDHA
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		T 0.800 GeneticVariation CLINVAR SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity. 28546994

2017
dbSNP: rs387906780
rs387906780
SDHA
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		T 0.800 GeneticVariation CLINVAR SDHD immunohistochemistry: a new tool to validate SDHx mutations in pheochromocytoma/paraganglioma. 25405498

2015
dbSNP: rs387906780
rs387906780
SDHA
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		T 0.800 GeneticVariation CLINVAR Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST. 23612575

2014
dbSNP: rs387906780
rs387906780
SDHA
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
SDHA
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		T 0.800 GeneticVariation CLINVAR Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors. 22955521

2013
dbSNP: rs387906780
rs387906780
SDHA
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		T 0.800 GeneticVariation CLINVAR Flavinylation and assembly of succinate dehydrogenase are dependent on the C-terminal tail of the flavoprotein subunit. 23043141

2012
dbSNP: rs387906780
rs387906780
SDHA
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		T 0.800 GeneticVariation CLINVAR SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing. 21505157

2011
dbSNP: rs387906780
rs387906780
SDHA
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		T 0.800 GeneticVariation CLINVAR SDHA is a tumor suppressor gene causing paraganglioma. 20484225

2010
dbSNP: rs387906780
rs387906780
SDHA
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		0.800 GeneticVariation UNIPROT SDHA is a tumor suppressor gene causing paraganglioma. 20484225

2010
dbSNP: rs387906780
rs387906780
SDHA
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		T 0.800 CausalMutation CLINVAR

dbSNP: rs1041809852
rs1041809852
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1041809852
rs1041809852
SDHA
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		G 0.700 CausalMutation CLINVAR

dbSNP: rs1057523165
rs1057523165
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		A 0.700 GeneticVariation CLINVAR SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. 24781757

2015
dbSNP: rs1057523165
rs1057523165
SDHA
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		A 0.700 GeneticVariation CLINVAR SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. 24781757

2015
dbSNP: rs1057523165
rs1057523165
SDHA
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		A 0.700 GeneticVariation CLINVAR SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumors. 22974104

2012
dbSNP: rs1057523165
rs1057523165
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		A 0.700 GeneticVariation CLINVAR SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumors. 22974104

2012
dbSNP: rs1057523165
rs1057523165
SDHA
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060503711
rs1060503711
SDHA
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		G 0.700 GeneticVariation CLINVAR

dbSNP: rs1061517
rs1061517
SDHA ; CCDC127
CUI: C1855008
Disease: Mitochondrial Complex II Deficiency
Mitochondrial Complex II Deficiency 		G 0.700 GeneticVariation CLINVAR Protein-mediated assembly of succinate dehydrogenase and its cofactors. 25488574

2016
dbSNP: rs1061517
rs1061517
SDHA ; CCDC127
CUI: C3279992
Disease: PARAGANGLIOMAS 5
PARAGANGLIOMAS 5 		G 0.700 GeneticVariation CLINVAR Protein-mediated assembly of succinate dehydrogenase and its cofactors. 25488574

2016
dbSNP: rs1061517
rs1061517
SDHA ; CCDC127
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR Expanded genetic screening panel for the Ashkenazi Jewish population. 26334176

2016