Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs74315369
rs74315369
CUI: C1533592
Disease: Malignant Paraganglionic Neoplasm
Malignant Paraganglionic Neoplasm
0.010 GeneticVariation BEFREE R27X nonsense mutation of the SDHB gene in a patient with sporadic malignant paraganglioma. 19415531

2009

dbSNP: rs772551056
rs772551056
CUI: C1533592
Disease: Malignant Paraganglionic Neoplasm
Malignant Paraganglionic Neoplasm
0.010 GeneticVariation BEFREE Our report highlights the pathogenic role of the SDHB mutation (R46Q) in malignant paraganglioma. 18362451

2008

dbSNP: rs899706404
rs899706404
CUI: C1533592
Disease: Malignant Paraganglionic Neoplasm
Malignant Paraganglionic Neoplasm
0.010 GeneticVariation BEFREE Our report highlights the pathogenic role of the SDHB mutation (R46Q) in malignant paraganglioma. 18362451

2008