CAPN1, calpain 1, 823

N. diseases: 165; N. variants: 6
Disease: SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs375817528
rs375817528
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1
CUI: C4310800
Disease:
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE 		A 0.700 GeneticVariation CLINVAR
dbSNP: rs375817528
rs375817528
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1
CUI: C4310800
Disease:
SPASTIC PARAPLEGIA 76, AUTOSOMAL RECESSIVE 		A 0.700 CausalMutation CLINVAR