rs587778661, SDHC

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
PARAGANGLIOMAS 3
CUI: C1854336
Disease: PARAGANGLIOMAS 3
0.700 GeneticVariation CLINVAR Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients. 27279923 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients. 27279923 2016
Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 GeneticVariation CLINVAR Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients. 27279923 2016
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 GeneticVariation CLINVAR Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients. 27279923 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations. 25394176 2015
Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 GeneticVariation CLINVAR Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations. 25394176 2015
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327 2014
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas. 24102379 2014
PARAGANGLIOMAS 3
CUI: C1854336
Disease: PARAGANGLIOMAS 3
0.700 GeneticVariation CLINVAR Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas. 24102379 2014
Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 GeneticVariation CLINVAR Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas. 24102379 2014
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 GeneticVariation CLINVAR Whole exome sequencing is an efficient and sensitive method for detection of germline mutations in patients with phaeochromcytomas and paragangliomas. 24102379 2014
Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 GeneticVariation CLINVAR Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. 24728327 2014
Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 GeneticVariation CLINVAR A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. 23666964 2013
PARAGANGLIOMAS 3
CUI: C1854336
Disease: PARAGANGLIOMAS 3
0.700 GeneticVariation CLINVAR A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. 23666964 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. 23666964 2013
Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 GeneticVariation CLINVAR Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444 2013
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 GeneticVariation CLINVAR A comprehensive next generation sequencing-based genetic testing strategy to improve diagnosis of inherited pheochromocytoma and paraganglioma. 23666964 2013
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO-PGL syndrome. 23175444 2013
PARAGANGLIOMAS 3
CUI: C1854336
Disease: PARAGANGLIOMAS 3
0.700 GeneticVariation CLINVAR Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. 19351833 2009
Hereditary Paraganglioma-Pheochromocytoma Syndrome
0.700 GeneticVariation CLINVAR Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. 19351833 2009
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 GeneticVariation CLINVAR Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. 19351833 2009
Gastrointestinal Stromal Tumors
CUI: C0238198
Disease: Gastrointestinal Stromal Tumors
0.700 GeneticVariation CLINVAR Clinical predictors for germline mutations in head and neck paraganglioma patients: cost reduction strategy in genetic diagnostic process as fall-out. 19351833 2009