Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894306
rs104894306
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR The R22X mutation of the SDHD gene in hereditary paraganglioma abolishes the enzymatic activity of complex II in the mitochondrial respiratory chain and activates the hypoxia pathway. 11605159 2001
dbSNP: rs104894306
rs104894306
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1847319
Disease:
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		T 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: C1847319
Disease:
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		T 0.700 CausalMutation CLINVAR Genetics of pheochromocytoma and paraganglioma in Spanish patients. 19258401 2009
dbSNP: rs104894306
rs104894306
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1847319
Disease:
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		T 0.700 CausalMutation CLINVAR Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. 11391798 2001
dbSNP: rs104894306
rs104894306
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0031511
Disease:
Pheochromocytoma 		T 0.700 CausalMutation CLINVAR Genetics of pheochromocytoma and paraganglioma in Spanish patients. 19258401 2009
dbSNP: rs104894306
rs104894306
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0031511
Disease:
Pheochromocytoma 		T 0.700 CausalMutation CLINVAR Nearly all hereditary paragangliomas in the Netherlands are caused by two founder mutations in the SDHD gene. 11391798 2001
dbSNP: rs104894306
rs104894306
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1868633
Disease:
Paragangliomas with Sensorineural Hearing Loss 		T 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 Genetic testing in pheochromocytoma or functional paraganglioma. 16314641 2005
dbSNP: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0031511
Disease:
Pheochromocytoma 		T 0.700 CausalMutation CLINVAR Novel SDHD germ-line mutations in pheochromocytoma patients. 17576205 2007
dbSNP: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1868633
Disease:
Paragangliomas with Sensorineural Hearing Loss 		T 0.700 CausalMutation CLINVAR Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas. 21945342 2012
dbSNP: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0007279
Disease:
Carotid Body Paraganglioma 		G 0.700 CausalMutation CLINVAR
dbSNP: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0031511
Disease:
Pheochromocytoma 		T 0.700 CausalMutation CLINVAR A role for mitochondrial enzymes in inherited neoplasia and beyond. 12612654 2003
dbSNP: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0031511
Disease:
Pheochromocytoma 		G 0.700 CausalMutation CLINVAR A role for mitochondrial enzymes in inherited neoplasia and beyond. 12612654 2003
dbSNP: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1847319
Disease:
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		T 0.700 CausalMutation CLINVAR Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases. 15066320 2004
dbSNP: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1868633
Disease:
Paragangliomas with Sensorineural Hearing Loss 		T 0.700 CausalMutation CLINVAR A Chinese family with familial paraganglioma syndrome due to succinate dehydrogenase deficiency. 17406045 2007
dbSNP: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1868633
Disease:
Paragangliomas with Sensorineural Hearing Loss 		G 0.700 CausalMutation CLINVAR Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases. 15066320 2004
dbSNP: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1868633
Disease:
Paragangliomas with Sensorineural Hearing Loss 		G 0.700 CausalMutation CLINVAR A role for mitochondrial enzymes in inherited neoplasia and beyond. 12612654 2003
dbSNP: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1847319
Disease:
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		G 0.700 CausalMutation CLINVAR Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases. 15066320 2004
dbSNP: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1868633
Disease:
Paragangliomas with Sensorineural Hearing Loss 		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: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0031511
Disease:
Pheochromocytoma 		T 0.700 CausalMutation CLINVAR Hereditary paraganglioma due to the SDHD M1I mutation in a second Chinese family: a founder effect? 12782822 2003
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: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1847319
Disease:
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		G 0.700 CausalMutation CLINVAR Common genetic mutations in the start codon of the SDH subunit D gene among Chinese families with familial head and neck paragangliomas. 21945342 2012
dbSNP: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0031511
Disease:
Pheochromocytoma 		G 0.700 CausalMutation CLINVAR Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases. 15066320 2004
dbSNP: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0031511
Disease:
Pheochromocytoma 		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: rs104894307
rs104894307
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1847319
Disease:
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		T 0.700 CausalMutation CLINVAR Novel mutations in the SDHD gene in pedigrees with familial carotid body paraganglioma and sensorineural hearing loss. 11391796 2001