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rs587780289

From SNPedia

Orientationplus
Geno Mag Summary
(AC;AC) 0 common in clinvar
Make rs587780289(-;-)
Make rs587780289(-;CA)
Make rs587780289(CA;CA)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position42410610
GeneCAPN3
is asnp
is mentioned by
dbSNPrs587780289
ebirs587780289
HLIrs587780289
Exacrs587780289
Varsomers587780289
Maprs587780289
PheGenIrs587780289
hapmaprs587780289
1000 genomesrs587780289
hgdprs587780289
ensemblrs587780289
gopubmedrs587780289
geneviewrs587780289
scholarrs587780289
googlers587780289
pharmgkbrs587780289
gwascentralrs587780289
openSNPrs587780289
23andMers587780289
23andMe allrs587780289
SNP Nexus

SNPshotrs587780289
SNPdbers587780289
MSV3drs587780289
GWAS Ctlgrs587780289
Max Magnitude0
ClinVar
Risk rs587780289(;)
Alt rs587780289(;)
Reference rs587780289(AC;AC)
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.42702808_42702809delCA
CLNSRC
CLNACC RCV000116541.1,