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rs121434544

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434544(A;A)
Make rs121434544(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position42402972
GeneCAPN3
is asnp
is mentioned by
dbSNPrs121434544
ebirs121434544
HLIrs121434544
Exacrs121434544
Varsomers121434544
Maprs121434544
PheGenIrs121434544
hapmaprs121434544
1000 genomesrs121434544
hgdprs121434544
ensemblrs121434544
gopubmedrs121434544
geneviewrs121434544
scholarrs121434544
googlers121434544
pharmgkbrs121434544
gwascentralrs121434544
openSNPrs121434544
23andMers121434544
23andMe allrs121434544
SNP Nexus

SNPshotrs121434544
SNPdbers121434544
MSV3drs121434544
GWAS Ctlgrs121434544
Max Magnitude0
OMIM114240
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121434544(A,T;A,T)
Alt rs121434544(A,T;A,T)
Reference rs121434544(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.42695170G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019180.26,