Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894303
rs104894303
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Mutations in SDHD, a mitochondrial complex II gene, in hereditary paraganglioma. 10657297 2000
dbSNP: rs104894303
rs104894303
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1868633
Disease:
Paragangliomas with Sensorineural Hearing Loss 		T 0.700 CausalMutation CLINVAR
dbSNP: rs104894305
rs104894305
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1868633
Disease:
Paragangliomas with Sensorineural Hearing Loss 		A 0.700 CausalMutation CLINVAR Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations. 23433498 2013
dbSNP: rs104894305
rs104894305
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1847319
Disease:
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		A 0.700 CausalMutation CLINVAR Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations. 23433498 2013
dbSNP: rs104894305
rs104894305
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0031511
Disease:
Pheochromocytoma 		A 0.700 CausalMutation CLINVAR Paraganglioma of the carotid body: treatment strategy and SDH-gene mutations. 23433498 2013
dbSNP: rs104894305
rs104894305
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		A 0.700 CausalMutation CLINVAR
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 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. 22241717 2012
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 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: C1868633
Disease:
Paragangliomas with Sensorineural Hearing Loss 		T 0.700 CausalMutation CLINVAR High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 21348866 2012
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 Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas. 22517554 2012
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 Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. 22241717 2012
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 Genetics of pheochromocytoma and paraganglioma in Spanish patients. 19258401 2009
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 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: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. 22241717 2012
dbSNP: rs104894306
rs104894306
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		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 Clinical presentation and penetrance of pheochromocytoma/paraganglioma syndromes. 16317055 2006
dbSNP: rs104894306
rs104894306
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0031511
Disease:
Pheochromocytoma 		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: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		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: C0031511
Disease:
Pheochromocytoma 		T 0.700 CausalMutation CLINVAR Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas. 22517554 2012
dbSNP: rs104894306
rs104894306
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		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 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: C0031511
Disease:
Pheochromocytoma 		T 0.700 CausalMutation CLINVAR Head and neck paragangliomas: genetic spectrum and clinical variability in 79 consecutive patients. 22241717 2012
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 High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 21348866 2012
dbSNP: rs104894306
rs104894306
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0031511
Disease:
Pheochromocytoma 		T 0.700 CausalMutation CLINVAR High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands. 21348866 2012
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 Screening of mutations in genes that predispose to hereditary paragangliomas and pheochromocytomas. 22517554 2012