DisGeNET - a database of gene-disease associations

Limb-girdle muscle weakness, C1858127

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:

rs1057518925

rs1057518925

COL6A2

G

0.700

GeneticVariation

CLINVAR

dbSNP:

rs398123640

rs398123640

COL6A1

A

0.700

GeneticVariation

CLINVAR

dbSNP:

rs80338800

rs80338800

CAPN3 ; LOC105370794

C

0.700

CausalMutation

CLINVAR