Gene: MEN1 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555164184
rs1555164184
MEN1 ; MAP4K2
TG 0.700 GeneticVariation CLINVAR Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression. 16449969

2006
dbSNP: rs1565635941
rs1565635941
MEN1 ; MAP4K2
TC 0.700 CausalMutation CLINVAR Direct binding of DNA by tumor suppressor menin. 15331604

2004
dbSNP: rs1565635941
rs1565635941
MEN1 ; MAP4K2
TC 0.700 CausalMutation CLINVAR Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression. 16449969

2006
dbSNP: rs1565635941
rs1565635941
MEN1 ; MAP4K2
TC 0.700 CausalMutation CLINVAR Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects. 10090472

1999
dbSNP: rs386134247
rs386134247
MEN1
TC 0.700 GeneticVariation CLINVAR

dbSNP: rs386134253
rs386134253
MEN1
TAA 0.700 CausalMutation CLINVAR

dbSNP: rs386134253
rs386134253
MEN1
TA 0.700 GeneticVariation CLINVAR

dbSNP: rs386134261
rs386134261
MEN1
TA 0.700 GeneticVariation CLINVAR

dbSNP: rs104894259
rs104894259
MEN1 ; MAP4K2
T 0.800 CausalMutation CLINVAR

dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
T 0.800 CausalMutation CLINVAR Clinical features of multiple endocrine neoplasia type 1 (MEN1) phenocopy without germline MEN1 gene mutations: analysis of 20 Japanese sporadic cases with MEN1. 10762295

2000
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
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
MEN1 ; MAP4K2
T 0.800 CausalMutation CLINVAR Frequent occurrence of an intron 4 mutation in multiple endocrine neoplasia type 1. 12050235

2002
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
T 0.800 CausalMutation CLINVAR Founder effect in multiple endocrine neoplasia type 1 (MEN 1) in Finland. 11303512

2001
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
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
MEN1 ; MAP4K2
T 0.800 CausalMutation CLINVAR Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype phenotype correlation. 17766710

2007
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
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: rs104894264
rs104894264
MEN1 ; MAP4K2
T 0.800 CausalMutation CLINVAR Characterization of mutations in patients with multiple endocrine neoplasia type 1. 9463336

1998
dbSNP: rs104894264
rs104894264
MEN1 ; MAP4K2
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: rs104894264
rs104894264
MEN1 ; MAP4K2
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: rs1114167528
rs1114167528
MEN1 ; MAP4K2
T 0.800 GeneticVariation CLINVAR

dbSNP: rs1555164707
rs1555164707
MEN1
T 0.800 CausalMutation CLINVAR

dbSNP: rs386134249
rs386134249
MEN1 ; MAP4K2
T 0.800 GeneticVariation CLINVAR Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. 15714081

2005
dbSNP: rs863224527
rs863224527
MEN1 ; MAP4K2
T 0.800 CausalMutation CLINVAR

dbSNP: rs863224527
rs863224527
MEN1 ; MAP4K2
T 0.800 GeneticVariation CLINVAR

dbSNP: rs1060499981
rs1060499981
MEN1 ; MAP4K2
T 0.710 GeneticVariation CLINVAR