Have questions? Visit https://www.reddit.com/r/SNPedia

rs121434546

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121434546(C;T)
Make rs121434546(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position42360062
GeneCAPN3
is asnp
is mentioned by
dbSNPrs121434546
ebirs121434546
HLIrs121434546
Exacrs121434546
Varsomers121434546
Maprs121434546
PheGenIrs121434546
hapmaprs121434546
1000 genomesrs121434546
hgdprs121434546
ensemblrs121434546
gopubmedrs121434546
geneviewrs121434546
scholarrs121434546
googlers121434546
pharmgkbrs121434546
gwascentralrs121434546
openSNPrs121434546
23andMers121434546
23andMe allrs121434546
SNP Nexus

SNPshotrs121434546
SNPdbers121434546
MSV3drs121434546
GWAS Ctlgrs121434546
Max Magnitude0
OMIM114240
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121434546(T;T)
Alt rs121434546(T;T)
Reference rs121434546(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.42652260C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000019182.29,