DisGeNET - a database of gene-disease associations

HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION, C4225333

Variant: rs794726858 ×

Source: ALL

Results per page

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

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs794726858

rs794726858

CNNM2 ; LOC107984265

G

0.800

GeneticVariation

CLINVAR

CNNM2 mutations cause impaired brain development and seizures in patients with hypomagnesemia.

2014

dbSNP:

rs794726858

rs794726858

CNNM2 ; LOC107984265

0.800

GeneticVariation

UNIPROT

dbSNP:

rs794726858

rs794726858

CNNM2 ; LOC107984265

G

0.800

CausalMutation

CLINVAR