Gene: CAPN3 ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863224963
rs863224963
CAPN3 ; LOC105370794
A 0.700 CausalMutation CLINVAR

dbSNP: rs878854364
rs878854364
CAPN3 ; LOC105370794
T 0.700 CausalMutation CLINVAR

dbSNP: rs886042108
rs886042108
CAPN3
C 0.700 GeneticVariation CLINVAR

dbSNP: rs886044052
rs886044052
CAPN3
A 0.700 GeneticVariation CLINVAR

dbSNP: rs886044527
rs886044527
CAPN3
T 0.700 GeneticVariation CLINVAR

dbSNP: rs80338802
rs80338802
CAPN3
A 0.810 CausalMutation CLINVAR Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 7720071

1995
dbSNP: rs80338802
rs80338802
CAPN3
A 0.810 CausalMutation CLINVAR Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval. 7762565

1995
dbSNP: rs80338802
rs80338802
CAPN3
A 0.810 CausalMutation CLINVAR Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus. 7795603

1995
dbSNP: rs121434544
rs121434544
CAPN3
A 0.800 CausalMutation CLINVAR Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 7720071

1995
dbSNP: rs121434548
rs121434548
CAPN3
A 0.800 CausalMutation CLINVAR Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 7720071

1995
dbSNP: rs141656719
rs141656719
CAPN3
T 0.800 CausalMutation CLINVAR Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 7720071

1995
dbSNP: rs1555421271
rs1555421271
CAPN3
G 0.800 GeneticVariation CLINVAR Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 7720071

1995
dbSNP: rs750083132
rs750083132
CAPN3
G 0.800 CausalMutation CLINVAR Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 7720071

1995
dbSNP: rs121434545
rs121434545
CAPN3 ; LOC105370794
T 0.700 CausalMutation CLINVAR Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 7720071

1995
dbSNP: rs1555423046
rs1555423046
CAPN3
G 0.700 CausalMutation CLINVAR Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 7720071

1995
dbSNP: rs764086484
rs764086484
CAPN3
G 0.700 CausalMutation CLINVAR Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 7720071

1995
dbSNP: rs80338800
rs80338800
CAPN3 ; LOC105370794
C 0.700 CausalMutation CLINVAR Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 7720071

1995
dbSNP: rs863224959
rs863224959
CAPN3
T 0.700 CausalMutation CLINVAR Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 7720071

1995
dbSNP: rs868791726
rs868791726
CAPN3
T 0.700 GeneticVariation CLINVAR Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. 7720071

1995
dbSNP: rs121434544
rs121434544
CAPN3
A 0.800 CausalMutation CLINVAR Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island. 8624690

1996
dbSNP: rs750083132
rs750083132
CAPN3
G 0.800 CausalMutation CLINVAR Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island. 8624690

1996
dbSNP: rs80338802
rs80338802
CAPN3
A 0.810 CausalMutation CLINVAR DNA studies of limb-girdle muscular dystrophy type 2A in the Amish exclude a modifying mitochondrial gene and show no evidence for a modifying nuclear gene. 9246005

1997
dbSNP: rs121434544
rs121434544
CAPN3
A 0.800 CausalMutation CLINVAR Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. 9150160

1997
dbSNP: rs121434547
rs121434547
CAPN3
T 0.800 GeneticVariation CLINVAR Multiple independent molecular etiology for limb-girdle muscular dystrophy type 2A patients from various geographical origins. 9150160

1997
dbSNP: rs121434548
rs121434548
CAPN3
A 0.800 CausalMutation CLINVAR A biochemical, genetic, and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey. 9266733

1997