Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs142441643
rs142441643
SDHA
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Adrenocortical carcinoma and succinate dehydrogenase gene mutations: an observational case series. 28819017

2017
dbSNP: rs142441643
rs142441643
SDHA
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Successful response to pegylated interferon alpha in a patient with recurrent paraganglioma. 27895137

2017
dbSNP: rs142441643
rs142441643
SDHA
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR In Vivo Detection of Succinate by Magnetic Resonance Spectroscopy as a Hallmark of SDHx Mutations in Paraganglioma. 26490314

2016
dbSNP: rs142441643
rs142441643
SDHA
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Heterogeneous genetic background of the association of pheochromocytoma/paraganglioma and pituitary adenoma: results from a large patient cohort. 25494863

2015
dbSNP: rs142441643
rs142441643
SDHA
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumors. 24781757

2015
dbSNP: rs142441643
rs142441643
SDHA
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR 15 YEARS OF PARAGANGLIOMA: The association of pituitary adenomas and phaeochromocytomas or paragangliomas. 26113600

2015
dbSNP: rs142441643
rs142441643
SDHA
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. 23666964

2013
dbSNP: rs142441643
rs142441643
SDHA
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Expression of IGF-1 receptor in KIT/PDGF receptor-α wild-type gastrointestinal stromal tumors with succinate dehydrogenase complex dysfunction. 23252569

2013
dbSNP: rs142441643
rs142441643
SDHA
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors. 23174939

2013
dbSNP: rs142441643
rs142441643
SDHA
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors. 23730622

2013
dbSNP: rs142441643
rs142441643
SDHA
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors. 22955521

2013
dbSNP: rs142441643
rs142441643
SDHA
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR SDHA loss-of-function mutations in KIT-PDGFRA wild-type gastrointestinal stromal tumors identified by massively parallel sequencing. 21505157

2011
dbSNP: rs142441643
rs142441643
SDHA
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR SDHA immunohistochemistry detects germline SDHA gene mutations in apparently sporadic paragangliomas and pheochromocytomas. 21752896

2011