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rs863224962

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs863224962(A;G)
Make rs863224962(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position42411285
GeneCAPN3
is asnp
is mentioned by
dbSNPrs863224962
ebirs863224962
HLIrs863224962
Exacrs863224962
Varsomers863224962
Maprs863224962
PheGenIrs863224962
hapmaprs863224962
1000 genomesrs863224962
hgdprs863224962
ensemblrs863224962
gopubmedrs863224962
geneviewrs863224962
scholarrs863224962
googlers863224962
pharmgkbrs863224962
gwascentralrs863224962
openSNPrs863224962
23andMers863224962
23andMe allrs863224962
SNP Nexus

SNPshotrs863224962
SNPdbers863224962
MSV3drs863224962
GWAS Ctlgrs863224962
Max Magnitude0
ClinVar
Risk rs863224962(G;G)
Alt rs863224962(G;G)
Reference rs863224962(A;A)
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.42703483A>G
CLNSRC Quest Diagnostics
CLNACC RCV000201091.1,