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rs121434545

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434545(C;T)
Make rs121434545(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position42384501
GeneCAPN3
is asnp
is mentioned by
dbSNPrs121434545
ebirs121434545
HLIrs121434545
Exacrs121434545
Varsomers121434545
Maprs121434545
PheGenIrs121434545
hapmaprs121434545
1000 genomesrs121434545
hgdprs121434545
ensemblrs121434545
gopubmedrs121434545
geneviewrs121434545
scholarrs121434545
googlers121434545
pharmgkbrs121434545
gwascentralrs121434545
openSNPrs121434545
23andMers121434545
23andMe allrs121434545
SNP Nexus

SNPshotrs121434545
SNPdbers121434545
MSV3drs121434545
GWAS Ctlgrs121434545
Max Magnitude0
OMIM114240
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121434545(A,T;A,T)
Alt rs121434545(A,T;A,T)
Reference rs121434545(C;C)
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.42676699C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019181.25,