Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516833
rs397516833
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4
G 0.700 CausalMutation CLINVAR Cardiac Paraganglioma Arising From the Right Atrioventricular Groove in a Paraganglioma-Pheochromocytoma Family Syndrome With Evidence of SDHB Gene Mutation: An Unusual Presentation. 27549546

2016

dbSNP: rs397516833
rs397516833
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
G 0.700 CausalMutation CLINVAR Cardiac Paraganglioma Arising From the Right Atrioventricular Groove in a Paraganglioma-Pheochromocytoma Family Syndrome With Evidence of SDHB Gene Mutation: An Unusual Presentation. 27549546

2016

dbSNP: rs397516833
rs397516833
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
G 0.700 CausalMutation CLINVAR Cardiac Paraganglioma Arising From the Right Atrioventricular Groove in a Paraganglioma-Pheochromocytoma Family Syndrome With Evidence of SDHB Gene Mutation: An Unusual Presentation. 27549546

2016

dbSNP: rs397516833
rs397516833
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Lack of utility of SDHB mutation testing in adrenergic metastatic phaeochromocytoma. 25371406

2015

dbSNP: rs397516833
rs397516833
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Pyruvate carboxylation enables growth of SDH-deficient cells by supporting aspartate biosynthesis. 26302408

2015

dbSNP: rs397516833
rs397516833
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
G 0.700 CausalMutation CLINVAR Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma. 23072324

2013

dbSNP: rs397516833
rs397516833
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma. 23072324

2013

dbSNP: rs397516833
rs397516833
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4
G 0.700 CausalMutation CLINVAR Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing. 23512077

2013

dbSNP: rs397516833
rs397516833
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4
G 0.700 CausalMutation CLINVAR Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma. 23072324

2013

dbSNP: rs397516833
rs397516833
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
G 0.700 CausalMutation CLINVAR Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma. 23072324

2013

dbSNP: rs397516833
rs397516833
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
G 0.700 CausalMutation CLINVAR Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. 19802898

2010

dbSNP: rs397516833
rs397516833
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4
G 0.700 CausalMutation CLINVAR Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. 19802898

2010

dbSNP: rs397516833
rs397516833
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
G 0.700 CausalMutation CLINVAR Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. 19802898

2010

dbSNP: rs397516833
rs397516833
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 19454582

2009

dbSNP: rs397516833
rs397516833
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
G 0.700 CausalMutation CLINVAR The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 19454582

2009

dbSNP: rs397516833
rs397516833
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4
G 0.700 CausalMutation CLINVAR The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 19454582

2009

dbSNP: rs397516833
rs397516833
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
G 0.700 CausalMutation CLINVAR The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 19454582

2009

dbSNP: rs397516833
rs397516833
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas. 18382370

2008

dbSNP: rs397516833
rs397516833
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
G 0.700 CausalMutation CLINVAR Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas. 18382370

2008

dbSNP: rs397516833
rs397516833
Hereditary Paraganglioma-Pheochromocytoma Syndrome
G 0.700 GeneticVariation CLINVAR Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas. 18382370

2008

dbSNP: rs397516833
rs397516833
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4
G 0.700 CausalMutation CLINVAR Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas. 18382370

2008

dbSNP: rs397516833
rs397516833
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
Gastrointestinal Stromal Tumors
G 0.700 CausalMutation CLINVAR Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas. 18382370

2008

dbSNP: rs397516833
rs397516833
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
G 0.700 CausalMutation CLINVAR Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas. 17200167

2007

dbSNP: rs397516833
rs397516833
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
Neoplastic Syndromes, Hereditary
G 0.700 CausalMutation CLINVAR Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas. 17200167

2007

dbSNP: rs397516833
rs397516833
CUI: C1861848
Disease: PARAGANGLIOMAS 4
PARAGANGLIOMAS 4
G 0.700 CausalMutation CLINVAR Clinical presentations, biochemical phenotypes, and genotype-phenotype correlations in patients with succinate dehydrogenase subunit B-associated pheochromocytomas and paragangliomas. 17200167

2007