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rs863224957

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs863224957(C;T)
Make rs863224957(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position42401751
GeneCAPN3
is asnp
is mentioned by
dbSNPrs863224957
ClinGenrs863224957
ebirs863224957
HLIrs863224957
Exacrs863224957
Varsomers863224957
Maprs863224957
PheGenIrs863224957
hapmaprs863224957
1000 genomesrs863224957
hgdprs863224957
ensemblrs863224957
gopubmedrs863224957
geneviewrs863224957
scholarrs863224957
googlers863224957
pharmgkbrs863224957
gwascentralrs863224957
openSNPrs863224957
23andMers863224957
23andMe allrs863224957
SNP Nexus

SNPshotrs863224957
SNPdbers863224957
MSV3drs863224957
GWAS Ctlgrs863224957
Max Magnitude0
ClinVar
Risk rs863224957(T;T)
Alt rs863224957(T;T)
Reference Rs863224957(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.42693949C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000201199.1,