Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516836
rs397516836
SDHB
A 0.700 CausalMutation CLINVAR Missense mutations in the human SDHB gene increase protein degradation without altering intrinsic enzymatic function. 22835832

2012
dbSNP: rs397516836
rs397516836
SDHB
A 0.700 CausalMutation CLINVAR Defects in succinate dehydrogenase in gastrointestinal stromal tumors lacking KIT and PDGFRA mutations. 21173220

2011
dbSNP: rs397516836
rs397516836
SDHB
A 0.700 CausalMutation CLINVAR Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients. 20119652

2010
dbSNP: rs397516836
rs397516836
SDHB
A 0.700 CausalMutation CLINVAR Tumor risks and genotype-phenotype-proteotype analysis in 358 patients with germline mutations in SDHB and SDHD. 19802898

2010
dbSNP: rs397516836
rs397516836
SDHB
A 0.700 CausalMutation CLINVAR SDHB-associated renal oncocytoma suggests a broadening of the renal phenotype in hereditary paragangliomatosis. 19184535

2009
dbSNP: rs397516836
rs397516836
SDHB
A 0.700 CausalMutation CLINVAR Germline SDHB mutations are common in patients with apparently sporadic sympathetic paragangliomas. 18382370

2008
dbSNP: rs397516836
rs397516836
SDHB
A 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: rs397516836
rs397516836
SDHB
A 0.700 CausalMutation CLINVAR A case of familial paraganglioma syndrome type 4 caused by a mutation in the SDHB gene. 17143317

2006