Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs79658334
rs79658334
RET
T 0.700 CausalMutation CLINVAR

dbSNP: rs121913306
rs121913306
RET
0.010 GeneticVariation BEFREE The A883F germline mutation of the rearranged during transfection (RET) proto-oncogene causes multiple endocrine neoplasia 2B. 28323957

2017
dbSNP: rs377767429
rs377767429
RET
0.010 GeneticVariation BEFREE The A883F germline mutation of the rearranged during transfection (RET) proto-oncogene causes multiple endocrine neoplasia 2B. 28323957

2017
dbSNP: rs74799832
rs74799832
RET
0.010 GeneticVariation BEFREE We aim to identify RET mutations' (C634R and M918T) expression, location, and signaling activation during the disease's progression, which providing a theoretical basis for the study on etiology of multiple endocrine neoplasia. 29237911

2017
dbSNP: rs75076352
rs75076352
RET
0.010 GeneticVariation BEFREE We aim to identify RET mutations' (C634R and M918T) expression, location, and signaling activation during the disease's progression, which providing a theoretical basis for the study on etiology of multiple endocrine neoplasia. 29237911

2017
dbSNP: rs192767214
rs192767214
PRLR
0.010 GeneticVariation BEFREE These symptoms were not associated with pituitary tumors or multiple endocrine neoplasia but were due to a heterozygous mutation in the prolactin receptor gene, PRLR, resulting in an amino acid change from histidine to arginine at codon 188 (His188Arg). 24195502

2013
dbSNP: rs398122522
rs398122522
PRLR
0.010 GeneticVariation BEFREE These symptoms were not associated with pituitary tumors or multiple endocrine neoplasia but were due to a heterozygous mutation in the prolactin receptor gene, PRLR, resulting in an amino acid change from histidine to arginine at codon 188 (His188Arg). 24195502

2013
dbSNP: rs527783523
rs527783523
STAT5A
0.010 GeneticVariation BEFREE These symptoms were not associated with pituitary tumors or multiple endocrine neoplasia but were due to a heterozygous mutation in the prolactin receptor gene, PRLR, resulting in an amino acid change from histidine to arginine at codon 188 (His188Arg). 24195502

2013
dbSNP: rs377767406
rs377767406
RET
0.010 GeneticVariation BEFREE A rare extracellular D631Y germline mutation of the RET proto-oncogene in two Korean families with multiple endocrine neoplasia 2A. 16839264

2006
dbSNP: rs77558292
rs77558292
RET
0.010 GeneticVariation BEFREE Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma. 16343103

2005
dbSNP: rs77939446
rs77939446
RET
0.010 GeneticVariation BEFREE Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma. 16343103

2005