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

rs121434548

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121434548(A;A)
Make rs121434548(A;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position42401755
GeneCAPN3
is asnp
is mentioned by
dbSNPrs121434548
ebirs121434548
HLIrs121434548
Exacrs121434548
Varsomers121434548
Maprs121434548
PheGenIrs121434548
hapmaprs121434548
1000 genomesrs121434548
hgdprs121434548
ensemblrs121434548
gopubmedrs121434548
geneviewrs121434548
scholarrs121434548
googlers121434548
pharmgkbrs121434548
gwascentralrs121434548
openSNPrs121434548
23andMers121434548
23andMe allrs121434548
SNP Nexus

SNPshotrs121434548
SNPdbers121434548
MSV3drs121434548
GWAS Ctlgrs121434548
Max Magnitude0
OMIM114240
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121434548(A,C;A,C)
Alt rs121434548(A,C;A,C)
Reference rs121434548(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.42693953G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000019189.29,