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rs121434547

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434547(C;T)
Make rs121434547(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position42392649
GeneCAPN3
is asnp
is mentioned by
dbSNPrs121434547
ebirs121434547
HLIrs121434547
Exacrs121434547
Varsomers121434547
Maprs121434547
PheGenIrs121434547
hapmaprs121434547
1000 genomesrs121434547
hgdprs121434547
ensemblrs121434547
gopubmedrs121434547
geneviewrs121434547
scholarrs121434547
googlers121434547
pharmgkbrs121434547
gwascentralrs121434547
openSNPrs121434547
23andMers121434547
23andMe allrs121434547
SNP Nexus

SNPshotrs121434547
SNPdbers121434547
MSV3drs121434547
GWAS Ctlgrs121434547
Max Magnitude0
OMIM114240
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121434547(T;T)
Alt rs121434547(T;T)
Reference rs121434547(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.42684847C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019183.29,