rs146646971, RET

N. diseases: 7
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.020 GeneticVariation BEFREE Here we report a case of a homozygous RET K666N mutation leading to coincident MTC and PHEO. 29408964 2018
Pheochromocytoma
CUI: C0031511
Disease: Pheochromocytoma
0.020 GeneticVariation BEFREE None of the K666N DNA variant carriers had evidence of primary hyperparathyroidism or pheochromocytoma. 27673361 2016