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rs587780291

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587780291(C;C)
Make rs587780291(C;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position42384544
GeneCAPN3, LOC105370794
is asnp
is mentioned by
dbSNPrs587780291
ebirs587780291
HLIrs587780291
Exacrs587780291
Varsomers587780291
Maprs587780291
PheGenIrs587780291
hapmaprs587780291
1000 genomesrs587780291
hgdprs587780291
ensemblrs587780291
gopubmedrs587780291
geneviewrs587780291
scholarrs587780291
googlers587780291
pharmgkbrs587780291
gwascentralrs587780291
openSNPrs587780291
23andMers587780291
23andMe allrs587780291
SNP Nexus

SNPshotrs587780291
SNPdbers587780291
MSV3drs587780291
GWAS Ctlgrs587780291
Max Magnitude0
ClinVar
Risk rs587780291(C;C)
Alt rs587780291(C;C)
Reference rs587780291(G;G)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene CAPN3
CLNDBN Limb-girdle muscular dystrophy, type 2A
Reversed 0
HGVS NC_000015.9:g.42676742G>C
CLNSRC
CLNACC RCV000116543.1,