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rs863224963

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224963(-;-)
Make rs863224963(-;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position42386270
GeneCAPN3, LOC105370794
is asnp
is mentioned by
dbSNPrs863224963
ClinGenrs863224963
ebirs863224963
HLIrs863224963
Exacrs863224963
Varsomers863224963
Maprs863224963
PheGenIrs863224963
hapmaprs863224963
1000 genomesrs863224963
hgdprs863224963
ensemblrs863224963
gopubmedrs863224963
geneviewrs863224963
scholarrs863224963
googlers863224963
pharmgkbrs863224963
gwascentralrs863224963
openSNPrs863224963
23andMers863224963
23andMe allrs863224963
SNP Nexus

SNPshotrs863224963
SNPdbers863224963
MSV3drs863224963
GWAS Ctlgrs863224963
Max Magnitude0
ClinVar
Risk rs863224963(-;-)
Alt rs863224963(-;-)
Reference Rs863224963(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.42678468delG
CLNSRC Quest Diagnostics
CLNACC RCV000201022.1,