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rs863224959

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863224959(C;T)
Make rs863224959(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position42402971
GeneCAPN3
is asnp
is mentioned by
dbSNPrs863224959
ebirs863224959
HLIrs863224959
Exacrs863224959
Varsomers863224959
Maprs863224959
PheGenIrs863224959
hapmaprs863224959
1000 genomesrs863224959
hgdprs863224959
ensemblrs863224959
gopubmedrs863224959
geneviewrs863224959
scholarrs863224959
googlers863224959
pharmgkbrs863224959
gwascentralrs863224959
openSNPrs863224959
23andMers863224959
23andMe allrs863224959
SNP Nexus

SNPshotrs863224959
SNPdbers863224959
MSV3drs863224959
GWAS Ctlgrs863224959
Max Magnitude0
ClinVar
Risk rs863224959(T;T)
Alt rs863224959(T;T)
Reference rs863224959(C;C)
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.42695169C>T
CLNSRC Quest Diagnostics
CLNACC RCV000201202.1,