Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs754403441
rs754403441
FKRP
CG 0.700 CausalMutation CLINVAR Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned. 26436962

2015
dbSNP: rs754403441
rs754403441
FKRP
CG 0.700 CausalMutation CLINVAR Abnormalities in alpha-dystroglycan expression in MDC1C and LGMD2I muscular dystrophies. 14742276

2004
dbSNP: rs754403441
rs754403441
FKRP
CG 0.700 CausalMutation CLINVAR The phenotype of limb-girdle muscular dystrophy type 2I. 12707425

2003
dbSNP: rs754403441
rs754403441
FKRP
CG 0.700 CausalMutation CLINVAR Phenotypic spectrum associated with mutations in the fukutin-related protein gene. 12666124

2003
dbSNP: rs754403441
rs754403441
FKRP
CG 0.700 CausalMutation CLINVAR Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan. 11592034

2001