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rs863224956

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224956(A;A)
Make rs863224956(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position42399641
GeneCAPN3
is asnp
is mentioned by
dbSNPrs863224956
ebirs863224956
HLIrs863224956
Exacrs863224956
Varsomers863224956
Maprs863224956
PheGenIrs863224956
hapmaprs863224956
1000 genomesrs863224956
hgdprs863224956
ensemblrs863224956
gopubmedrs863224956
geneviewrs863224956
scholarrs863224956
googlers863224956
pharmgkbrs863224956
gwascentralrs863224956
openSNPrs863224956
23andMers863224956
23andMe allrs863224956
SNP Nexus

SNPshotrs863224956
SNPdbers863224956
MSV3drs863224956
GWAS Ctlgrs863224956
Max Magnitude0
ClinVar
Risk rs863224956(A;A)
Alt rs863224956(A;A)
Reference rs863224956(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.42691839G>A
CLNSRC Quest Diagnostics
CLNACC RCV000201031.1,