Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR Pituitary adenoma with paraganglioma/pheochromocytoma (3PAs) and succinate dehydrogenase defects in humans and mice. 25695889

2015
dbSNP: rs80338844
rs80338844
SDHD
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: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR Krebs cycle metabolite profiling for identification and stratification of pheochromocytomas/paragangliomas due to succinate dehydrogenase deficiency. 25014000

2014
dbSNP: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR Pitfalls in genetic analysis of pheochromocytomas/paragangliomas-case report. 24758185

2014
dbSNP: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas. 24102379

2014
dbSNP: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444

2013
dbSNP: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR Sporadic or familial head neck paragangliomas enrolled in a single center: clinical presentation and genotype/phenotype correlations. 22290790

2013
dbSNP: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations. 23433498

2013
dbSNP: rs80338844
rs80338844
SDHD
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: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR Molecular analysis of pheochromocytoma after maternal transmission of SDHD mutation elucidates mechanism of parent-of-origin effect. 21937622

2011
dbSNP: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 19454582

2009
dbSNP: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR SDHB, SDHC, and SDHD mutation screen in sporadic and familial head and neck paragangliomas. 15479192

2004
dbSNP: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. 12811540

2003
dbSNP: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR Prevalence of SDHB, SDHC, and SDHD germline mutations in clinic patients with head and neck paragangliomas. 11897817

2002
dbSNP: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. 11391796

2001
dbSNP: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR Novel mutations and the emergence of a common mutation in the SDHD gene causing familial paraganglioma. 11343322

2001
dbSNP: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR Somatic and occult germ-line mutations in SDHD, a mitochondrial complex II gene, in nonfamilial pheochromocytoma. 11156372

2000
dbSNP: rs80338844
rs80338844
SDHD
T 0.700 CausalMutation CLINVAR Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. 10657297

2000