rs11214077, SDHD;TIMM8B

N. diseases: 12
Disease: Paraganglioma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Paraganglioma
CUI: C0030421
Disease: Paraganglioma
0.010 GeneticVariation BEFREE A first case of variant c.149 A>G (H50R) was found in a patient with an extra-adrenal pheochromocytoma, the other variant c.34 G>A (G12S) in a patient with a paratracheal paraganglioma, C-cell hyperplasia of the thyroid and hyperplasia of ACTH-producing cells of the pituitary gland. 12386824 2002