DisGeNET - a database of gene-disease associations

Variant: rs794728648 ×

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Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Disease

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs794728648

MEN1

CUI:	C0025267
Disease:	Multiple Endocrine Neoplasia Type 1

Multiple Endocrine Neoplasia Type 1

0.710

GeneticVariation

BEFREE

Analysis of MEN1 c.482G>A (p.Gly161Asp) mutation in a pedigree with familial multiple endocrine neoplasia type 1.

2017