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rs863224960

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224960(G;T)
Make rs863224960(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position42409327
GeneCAPN3
is asnp
is mentioned by
dbSNPrs863224960
ebirs863224960
HLIrs863224960
Exacrs863224960
Varsomers863224960
Maprs863224960
PheGenIrs863224960
hapmaprs863224960
1000 genomesrs863224960
hgdprs863224960
ensemblrs863224960
gopubmedrs863224960
geneviewrs863224960
scholarrs863224960
googlers863224960
pharmgkbrs863224960
gwascentralrs863224960
openSNPrs863224960
23andMers863224960
23andMe allrs863224960
SNP Nexus

SNPshotrs863224960
SNPdbers863224960
MSV3drs863224960
GWAS Ctlgrs863224960
Max Magnitude0
ClinVar
Risk rs863224960(T;T)
Alt rs863224960(T;T)
Reference rs863224960(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.42701525G>T
CLNSRC Quest Diagnostics
CLNACC RCV000201136.1,