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rs863224961

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224961(G;T)
Make rs863224961(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position42409381
GeneCAPN3
is asnp
is mentioned by
dbSNPrs863224961
ebirs863224961
HLIrs863224961
Exacrs863224961
Varsomers863224961
Maprs863224961
PheGenIrs863224961
hapmaprs863224961
1000 genomesrs863224961
hgdprs863224961
ensemblrs863224961
gopubmedrs863224961
geneviewrs863224961
scholarrs863224961
googlers863224961
pharmgkbrs863224961
gwascentralrs863224961
openSNPrs863224961
23andMers863224961
23andMe allrs863224961
SNP Nexus

SNPshotrs863224961
SNPdbers863224961
MSV3drs863224961
GWAS Ctlgrs863224961
Max Magnitude0
ClinVar
Risk rs863224961(T;T)
Alt rs863224961(T;T)
Reference rs863224961(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.42701579G>T
CLNSRC Quest Diagnostics
CLNACC RCV000201069.1,