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rs863224958

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs863224958(A;A)
Make rs863224958(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position42359951
GeneCAPN3
is asnp
is mentioned by
dbSNPrs863224958
ebirs863224958
HLIrs863224958
Exacrs863224958
Varsomers863224958
Maprs863224958
PheGenIrs863224958
hapmaprs863224958
1000 genomesrs863224958
hgdprs863224958
ensemblrs863224958
gopubmedrs863224958
geneviewrs863224958
scholarrs863224958
googlers863224958
pharmgkbrs863224958
gwascentralrs863224958
openSNPrs863224958
23andMers863224958
23andMe allrs863224958
SNP Nexus

SNPshotrs863224958
SNPdbers863224958
MSV3drs863224958
GWAS Ctlgrs863224958
Max Magnitude0
ClinVar
Risk rs863224958(A;A)
Alt rs863224958(A;A)
Reference rs863224958(G;G)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene CAPN3
CLNDBN Limb-girdle muscular dystrophy, type 2A
Reversed 0
HGVS NC_000015.9:g.42652149G>A
CLNSRC Quest Diagnostics
CLNACC RCV000201045.1,