Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75076352
rs75076352
RET
0.710 GeneticVariation BEFREE In the present study, we investigated whether the oncogenic RET mutants RET2A (C634R) and RET2B (M918T) were regulated by LRIG1, and the possible effects of LRIG1 expression in thyroid cancer were investigated in three different clinical cohorts and in a RET2B-driven mouse model of MTC. 29436694

2018

dbSNP: rs75076352
rs75076352
RET
C 0.710 CausalMutation CLINVAR High penetrance of pheochromocytoma in multiple endocrine neoplasia 2 caused by germ line RET codon 634 mutation in Japanese patients. 23416954

2013

dbSNP: rs75076352
rs75076352
RET
C 0.710 CausalMutation CLINVAR The receptor-type protein tyrosine phosphatase J antagonizes the biochemical and biological effects of RET-derived oncoproteins. 16778204

2006

dbSNP: rs75076352
rs75076352
RET
C 0.710 CausalMutation CLINVAR Nuclear factor-kappaB is constitutively active in C-cell carcinoma and required for RET-induced transformation. 11389085

2001