Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894308
rs104894308
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1847319
Disease:
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
A 0.700 CausalMutation CLINVAR Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome. 20098451 2010
dbSNP: rs104894308
rs104894308
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1847319
Disease:
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
A 0.700 CausalMutation CLINVAR Genetics of pheochromocytoma and paraganglioma in Spanish patients. 19258401 2009
dbSNP: rs104894308
rs104894308
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1847319
Disease:
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
A 0.700 CausalMutation CLINVAR The succinate dehydrogenase genetic testing in a large prospective series of patients with paragangliomas. 19454582 2009
dbSNP: rs104894308
rs104894308
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1847319
Disease:
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
A 0.700 CausalMutation CLINVAR Paraganglioma after maternal transmission of a succinate dehydrogenase gene mutation. 18211978 2008
dbSNP: rs104894308
rs104894308
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1847319
Disease:
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
A 0.700 CausalMutation CLINVAR W43X SDHD mutation in sporadic head and neck paraganglioma. 18561749 2008
dbSNP: rs104894308
rs104894308
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1847319
Disease:
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
A 0.700 CausalMutation CLINVAR Identification of novel SDHD mutations in patients with phaeochromocytoma and/or paraganglioma. 12111639 2002