CAPN3, calpain 3, 825

N. diseases: 137; N. variants: 155
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434544
rs121434544
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
0.800 GeneticVariation UNIPROT
dbSNP: rs121434547
rs121434547
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
T 0.800 CausalMutation CLINVAR
dbSNP: rs121434547
rs121434547
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
0.800 GeneticVariation UNIPROT
dbSNP: rs121434548
rs121434548
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
0.800 GeneticVariation UNIPROT
dbSNP: rs777483913
rs777483913
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
T 0.800 CausalMutation CLINVAR
dbSNP: rs863224956
rs863224956
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
0.800 GeneticVariation UNIPROT
dbSNP: rs1064793620
rs1064793620
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
C 0.700 CausalMutation CLINVAR
dbSNP: rs121434546
rs121434546
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
T 0.700 CausalMutation CLINVAR
dbSNP: rs1293496023
rs1293496023
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
C 0.700 CausalMutation CLINVAR
dbSNP: rs141656719
rs141656719
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C4748295
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4
T 0.700 CausalMutation CLINVAR
dbSNP: rs142004418
rs142004418
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
T 0.700 CausalMutation CLINVAR
dbSNP: rs142004418
rs142004418
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C4748295
Disease:
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4
T 0.700 CausalMutation CLINVAR
dbSNP: rs1447774727
rs1447774727
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
CT 0.700 GeneticVariation CLINVAR
dbSNP: rs1555417257
rs1555417257
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555417271
rs1555417271
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
T 0.700 CausalMutation CLINVAR
dbSNP: rs1555417321
rs1555417321
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555420083
rs1555420083
Entrez Id: 825;105370794
Gene Symbol: CAPN3;LOC105370794
CAPN3;LOC105370794
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
C 0.700 GeneticVariation CLINVAR
dbSNP: rs1555420302
rs1555420302
Entrez Id: 825;105370794
Gene Symbol: CAPN3;LOC105370794
CAPN3;LOC105370794
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555420462
rs1555420462
Entrez Id: 825;105370794
Gene Symbol: CAPN3;LOC105370794
CAPN3;LOC105370794
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555420475
rs1555420475
Entrez Id: 825;105370794
Gene Symbol: CAPN3;LOC105370794
CAPN3;LOC105370794
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
A 0.700 CausalMutation CLINVAR
dbSNP: rs1555420508
rs1555420508
Entrez Id: 825;105370794
Gene Symbol: CAPN3;LOC105370794
CAPN3;LOC105370794
CUI: C0026848
Disease:
Myopathy
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555420508
rs1555420508
Entrez Id: 825;105370794
Gene Symbol: CAPN3;LOC105370794
CAPN3;LOC105370794
CUI: C0558845
Disease:
Reflex, Ankle, Absent
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555420508
rs1555420508
Entrez Id: 825;105370794
Gene Symbol: CAPN3;LOC105370794
CAPN3;LOC105370794
CUI: C0151786
Disease:
Muscle Weakness
A 0.700 GeneticVariation CLINVAR
dbSNP: rs1555420642
rs1555420642
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
AT 0.700 CausalMutation CLINVAR
dbSNP: rs1555420647
rs1555420647
Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C1869123
Disease:
Limb-girdle muscular dystrophy type 2A
T 0.700 GeneticVariation CLINVAR