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rs398123147

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398123147(-;-)
Make rs398123147(-;GTCA)
Make rs398123147(GTCA;GTCA)
ReferenceGRCh38 38.1/141
Chromosome15
Position42410657
GeneCAPN3
is asnp
is mentioned by
dbSNPrs398123147
ebirs398123147
HLIrs398123147
Exacrs398123147
Varsomers398123147
Maprs398123147
PheGenIrs398123147
hapmaprs398123147
1000 genomesrs398123147
hgdprs398123147
ensemblrs398123147
gopubmedrs398123147
geneviewrs398123147
scholarrs398123147
googlers398123147
pharmgkbrs398123147
gwascentralrs398123147
openSNPrs398123147
23andMers398123147
23andMe allrs398123147
SNP Nexus

SNPshotrs398123147
SNPdbers398123147
MSV3drs398123147
GWAS Ctlgrs398123147
Max Magnitude0
ClinVar
Risk rs398123147(CAGT;CAGT)
Alt rs398123147(CAGT;CAGT)
Reference rs398123147(;)
Significance Pathogenic
Disease not provided Limb-girdle muscular dystrophy
Variation info
Gene CAPN3
CLNDBN not provided Limb-girdle muscular dystrophy, type 2A
Reversed 0
HGVS NC_000015.9:g.42702852_42702855dupGTCA
CLNSRC ClinVar
CLNACC RCV000078093.3, RCV000176143.1,