Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499991
rs1060499991
MEN1 ; MAP4K2
T 0.710 CausalMutation CLINVAR Novel mutations in MEN1, CDKN1B and AIP genes in patients with multiple endocrine neoplasia type 1 syndrome in Spain. 22026581

2012
dbSNP: rs1060499991
rs1060499991
MEN1 ; MAP4K2
T 0.710 CausalMutation CLINVAR Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression. 16449969

2006
dbSNP: rs1060499991
rs1060499991
MEN1 ; MAP4K2
T 0.710 CausalMutation CLINVAR Direct binding of DNA by tumor suppressor menin. 15331604

2004
dbSNP: rs1060499991
rs1060499991
MEN1 ; MAP4K2
T 0.710 CausalMutation CLINVAR The different ages of disease presentation and the heterogeneity of symptoms among carriers of the Trp471Stop mutation, which would lead to the synthesis of a truncated non-functional protein, suggest that clinical heterogeneity is a characteristic of MEN1 independent of the type of mutation. 10435055

1999
dbSNP: rs1060499991
rs1060499991
MEN1 ; MAP4K2
T 0.710 CausalMutation CLINVAR Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects. 10090472

1999
dbSNP: rs1060499991
rs1060499991
MEN1 ; MAP4K2
0.710 GeneticVariation BEFREE The different ages of disease presentation and the heterogeneity of symptoms among carriers of the Trp471Stop mutation, which would lead to the synthesis of a truncated non-functional protein, suggest that clinical heterogeneity is a characteristic of MEN1 independent of the type of mutation. 10435055

1999