DisGeNET - a database of gene-disease associations

Central Core Myopathy (disorder), C0751951

Variant: rs118192146 ×

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:

rs118192146

rs118192146

RYR1

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Multi-minicore disease.

2012

dbSNP:

rs118192146

rs118192146

RYR1

0.800

GeneticVariation

UNIPROT

Clinical utility gene card for: Central core disease.

2012

dbSNP:

rs118192146

rs118192146

RYR1

G

0.800

CausalMutation

CLINVAR