Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397514034
rs397514034
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1847319
Disease:
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
A 0.700 CausalMutation CLINVAR Diagnosis and management of hereditary paraganglioma syndrome due to the F933>X67 SDHD mutation. 19072999 2009
dbSNP: rs397514034
rs397514034
Entrez Id: 6392;26521
Gene Symbol: SDHD;TIMM8B
SDHD;TIMM8B
CUI: C1847319
Disease:
PARAGANGLIOMA AND GASTRIC STROMAL SARCOMA
A 0.700 CausalMutation CLINVAR Germline SDHD mutation in familial phaeochromocytoma. 11323050 2001