Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894263
rs104894263
C 0.810 CausalMutation CLINVAR

dbSNP: rs386134256
rs386134256
G 0.800 CausalMutation CLINVAR Clinical Features and Response to Treatment of Prolactinomas in Children and Adolescents: A Retrospective Single-Centre Analysis and Review of the Literature. 29455199

2018

dbSNP: rs386134256
rs386134256
G 0.800 CausalMutation CLINVAR Is Routine Screening of Young Asymptomatic MEN1 Patients Necessary? 28321559

2017

dbSNP: rs386134256
rs386134256
G 0.800 CausalMutation CLINVAR Cinacalcet therapy in patients affected by primary hyperparathyroidism associated to Multiple Endocrine Neoplasia Syndrome type 1 (MEN1). 26224587

2016

dbSNP: rs386134256
rs386134256
G 0.800 CausalMutation CLINVAR Prognostic role of the CDNK1B V109G polymorphism in multiple endocrine neoplasia type 1. 25824098

2015

dbSNP: rs386134256
rs386134256
G 0.800 CausalMutation CLINVAR Impact of long-acting octreotide in patients with early-stage MEN1-related duodeno-pancreatic neuroendocrine tumours. 24443791

2014

dbSNP: rs376872829
rs376872829
G 0.800 GeneticVariation CLINVAR MEN1 is a melanoma tumor suppressor that preserves genomic integrity by stimulating transcription of genes that promote homologous recombination-directed DNA repair. 23648481

2013

dbSNP: rs376872829
rs376872829
G 0.800 GeneticVariation CLINVAR Menin missense mutants encoded by the MEN1 gene that are targeted to the proteasome: restoration of expression and activity by CHIP siRNA. 22090276

2012

dbSNP: rs398124435
rs398124435
A 0.800 GeneticVariation CLINVAR Menin missense mutants encoded by the MEN1 gene that are targeted to the proteasome: restoration of expression and activity by CHIP siRNA. 22090276

2012

dbSNP: rs104894264
rs104894264
T 0.800 CausalMutation CLINVAR Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms. 21819486

2011

dbSNP: rs398124435
rs398124435
A 0.800 GeneticVariation CLINVAR The tumor suppressor protein menin inhibits AKT activation by regulating its cellular localization. 21127195

2011

dbSNP: rs398124435
rs398124435
A 0.800 GeneticVariation CLINVAR Correlation of mutant menin stability with clinical expression of multiple endocrine neoplasia type 1 and its incomplete forms. 21819486

2011

dbSNP: rs386134256
rs386134256
G 0.800 CausalMutation CLINVAR Screening of patients with multiple endocrine neoplasia type 1 (MEN-1): a critical analysis of its value. 19350320

2009

dbSNP: rs104894264
rs104894264
T 0.800 CausalMutation CLINVAR Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype phenotype correlation. 17766710

2007

dbSNP: rs386134256
rs386134256
G 0.800 CausalMutation CLINVAR Adrenal involvement in multiple endocrine neoplasia type 1: results of 7 years prospective screening. 17235589

2007

dbSNP: rs386134256
rs386134256
G 0.800 CausalMutation CLINVAR Developing effective screening strategies in multiple endocrine neoplasia type 1 (MEN 1) on the basis of clinical and sequencing data of German patients with MEN 1. 17853334

2007

dbSNP: rs386134249
rs386134249
T 0.800 GeneticVariation CLINVAR Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. 15714081

2005

dbSNP: rs398124435
rs398124435
A 0.800 GeneticVariation CLINVAR Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. 15714081

2005

dbSNP: rs104894264
rs104894264
T 0.800 CausalMutation CLINVAR Menin missense mutants associated with multiple endocrine neoplasia type 1 are rapidly degraded via the ubiquitin-proteasome pathway. 15254225

2004

dbSNP: rs104894264
rs104894264
T 0.800 CausalMutation CLINVAR Efficient mutation detection in MEN1 gene using a combination of single-strand conformation polymorphism (MDGA) and heteroduplex analysis. 12652570

2003

dbSNP: rs376872829
rs376872829
G 0.800 GeneticVariation CLINVAR The 32-kilodalton subunit of replication protein A interacts with menin, the product of the MEN1 tumor suppressor gene. 12509449

2003

dbSNP: rs104894264
rs104894264
T 0.800 CausalMutation CLINVAR Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study. 11836268

2002

dbSNP: rs104894264
rs104894264
T 0.800 CausalMutation CLINVAR Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1. 12050235

2002

dbSNP: rs104894264
rs104894264
T 0.800 CausalMutation CLINVAR Germline mutation profile of MEN1 in multiple endocrine neoplasia type 1: search for correlation between phenotype and the functional domains of the MEN1 protein. 12112656

2002

dbSNP: rs104894264
rs104894264
T 0.800 CausalMutation CLINVAR Founder effect in multiple endocrine neoplasia type 1 (MEN 1) in Finland. 11303512

2001