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rs863224964

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224964(A;A)
Make rs863224964(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position42387752
GeneCAPN3, LOC105370794
is asnp
is mentioned by
dbSNPrs863224964
ebirs863224964
HLIrs863224964
Exacrs863224964
Varsomers863224964
Maprs863224964
PheGenIrs863224964
hapmaprs863224964
1000 genomesrs863224964
hgdprs863224964
ensemblrs863224964
gopubmedrs863224964
geneviewrs863224964
scholarrs863224964
googlers863224964
pharmgkbrs863224964
gwascentralrs863224964
openSNPrs863224964
23andMers863224964
23andMe allrs863224964
SNP Nexus

SNPshotrs863224964
SNPdbers863224964
MSV3drs863224964
GWAS Ctlgrs863224964
Max Magnitude0
ClinVar
Risk rs863224964(A;A)
Alt rs863224964(A;A)
Reference rs863224964(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.42679950G>A
CLNSRC Quest Diagnostics
CLNACC RCV000201080.1,