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rs587780290

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587780290(A;A)
Make rs587780290(A;G)
ReferenceGRCh38.p2 38.2/144
Chromosome15
Position42410646
GeneCAPN3
is asnp
is mentioned by
dbSNPrs587780290
ebirs587780290
HLIrs587780290
Exacrs587780290
Varsomers587780290
Maprs587780290
PheGenIrs587780290
hapmaprs587780290
1000 genomesrs587780290
hgdprs587780290
ensemblrs587780290
gopubmedrs587780290
geneviewrs587780290
scholarrs587780290
googlers587780290
pharmgkbrs587780290
gwascentralrs587780290
openSNPrs587780290
23andMers587780290
23andMe allrs587780290
SNP Nexus

SNPshotrs587780290
SNPdbers587780290
MSV3drs587780290
GWAS Ctlgrs587780290
Max Magnitude0
ClinVar
Risk rs587780290(A;A)
Alt rs587780290(A;A)
Reference rs587780290(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.42702844G>A
CLNSRC Quest Diagnostics
CLNACC RCV000116542.2,