Disease: Neoplastic Syndromes, Hereditary ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1131691064
rs1131691064
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1555187083
rs1555187083
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs779249550
rs779249550
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs876659276
rs876659276
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs886041237
rs886041237
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		GC 0.700 CausalMutation CLINVAR
dbSNP: rs1060503770
rs1060503770
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR 15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5. 26273102 2015
dbSNP: rs755047928
rs755047928
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR 15 YEARS OF PARAGANGLIOMA: Clinical manifestations of paraganglioma syndromes types 1-5. 26273102 2015
dbSNP: rs80338842
rs80338842
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		C 0.700 CausalMutation CLINVAR A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency. 17406045 2007
dbSNP: rs80338844
rs80338844
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease:
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: rs786205436
rs786205436
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. 26008905 2015
dbSNP: rs80338845
rs80338845
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR A recessive homozygous p.Asp92Gly SDHD mutation causes prenatal cardiomyopathy and a severe mitochondrial complex II deficiency. 26008905 2015
dbSNP: rs755047928
rs755047928
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR Aberrant DNA hypermethylation of SDHC: a novel mechanism of tumor development in Carney triad. 24859990 2014
dbSNP: rs104894304
rs104894304
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Active succinate dehydrogenase (SDH) and lack of SDHD mutations in sporadic paragangliomas. 16080530 2005
dbSNP: rs80338844
rs80338844
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. 12811540 2003
dbSNP: rs876659130
rs876659130
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TA 0.700 CausalMutation CLINVAR Altitude is a phenotypic modifier in hereditary paraganglioma type 1: evidence for an oxygen-sensing defect. 12811540 2003
dbSNP: rs755047928
rs755047928
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 GeneticVariation CLINVAR An immunohistochemical procedure to detect patients with paraganglioma and phaeochromocytoma with germline SDHB, SDHC, or SDHD gene mutations: a retrospective and prospective analysis. 19576851 2009
dbSNP: rs104894304
rs104894304
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Carotid body paraganglioma and SDHD mutation in a Greek family. 16080474 2005
dbSNP: rs104894304
rs104894304
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Challenges in the diagnosis of pheochromocytoma and paraganglioma syndrome. 25275255 2014
dbSNP: rs587776649
rs587776649
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Clinical and molecular genetics of patients with the Carney-Stratakis syndrome and germline mutations of the genes coding for the succinate dehydrogenase subunits SDHB, SDHC, and SDHD. 17667967 2008
dbSNP: rs80338843
rs80338843
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. 19825962 2009
dbSNP: rs1555187574
rs1555187574
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 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
dbSNP: rs104894304
rs104894304
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		G 0.700 CausalMutation CLINVAR Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. 16317055 2006
dbSNP: rs104894306
rs104894306
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. 16317055 2006
dbSNP: rs1555187635
rs1555187635
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		TT 0.700 GeneticVariation CLINVAR Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. 16317055 2006