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rs80338801

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338801(A;A)
Make rs80338801(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position42392638
GeneCAPN3
is asnp
is mentioned by
dbSNPrs80338801
ebirs80338801
HLIrs80338801
Exacrs80338801
Varsomers80338801
Maprs80338801
PheGenIrs80338801
hapmaprs80338801
1000 genomesrs80338801
hgdprs80338801
ensemblrs80338801
gopubmedrs80338801
geneviewrs80338801
scholarrs80338801
googlers80338801
pharmgkbrs80338801
gwascentralrs80338801
openSNPrs80338801
23andMers80338801
23andMe allrs80338801
SNP Nexus

SNPshotrs80338801
SNPdbers80338801
MSV3drs80338801
GWAS Ctlgrs80338801
Max Magnitude0
ClinVar
Risk rs80338801(A;A)
Alt rs80338801(A;A)
Reference rs80338801(G;G)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene CAPN3
CLNDBN Limb-girdle muscular dystrophy, type 2A
Reversed 0
HGVS NC_000015.9:g.42684836G>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020097.1,


[PMID 8624690] Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island.


[PMID 9777948OA-icon.png] Characterization of monoclonal antibodies to calpain 3 and protein expression in muscle from patients with limb-girdle muscular dystrophy type 2A.