Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894309
rs104894309
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Mediastinal paragangliomas related to SDHx gene mutations. 27785149 2016
dbSNP: rs104894309
rs104894309
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Usefulness of Somatostatin Receptor Scintigraphy (Tc-[HYNIC, Tyr3]-Octreotide) and 123I-Metaiodobenzylguanidine Scintigraphy in Patients with SDHx Gene-Related Pheochromocytomas and Paragangliomas Detected by Computed Tomography. 25791839 2015
dbSNP: rs587776649
rs587776649
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		T 0.700 CausalMutation CLINVAR Succinate dehydrogenase-deficient gastrointestinal stromal tumors. 25741136 2015
dbSNP: rs80338842
rs80338842
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1708353
Disease:
Hereditary Paraganglioma-Pheochromocytoma Syndrome 		C 0.700 CausalMutation CLINVAR Germline mutations and genotype-phenotype associations in head and neck paraganglioma patients with negative family history in China. 26096992 2015
dbSNP: rs80338843
rs80338843
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0031511
Disease:
Pheochromocytoma 		T 0.700 CausalMutation CLINVAR Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients. 26269449 2015
dbSNP: rs80338843
rs80338843
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1847319
Disease:
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		T 0.700 CausalMutation CLINVAR Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients. 26269449 2015
dbSNP: rs80338843
rs80338843
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1868633
Disease:
Paragangliomas with Sensorineural Hearing Loss 		T 0.700 CausalMutation CLINVAR Recommendations for somatic and germline genetic testing of single pheochromocytoma and paraganglioma based on findings from a series of 329 patients. 26269449 2015
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: rs587782210
rs587782210
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C0027672
Disease:
Neoplastic Syndromes, Hereditary 		A 0.700 CausalMutation CLINVAR Inherited mutations in pheochromocytoma and paraganglioma: why all patients should be offered genetic testing. 23512077 2013
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: 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: 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: 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: 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
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: 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: C1847319
Disease:
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA 		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: C0031511
Disease:
Pheochromocytoma 		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