rs80338844, SDHD

N. diseases: 10
Disease: Paraganglioma of head and neck ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Paraganglioma of head and neck
CUI: C1333944
Disease: Paraganglioma of head and neck
0.010 GeneticVariation BEFREE No somatic mutations were detected in the HNPGL tumours, but four cases with multiple HNPGL had the common P81L germline SDHD mutation. 14974914 2003