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rs863224966

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(GATA;GATA) 0 common in clinvar
Make rs863224966(CTT;CTT)
Make rs863224966(CTT;GATA)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position42390034
GeneCAPN3
is asnp
is mentioned by
dbSNPrs863224966
dbSNP (old)rs863224966
ClinGenrs863224966
ebirs863224966
HLIrs863224966
Exacrs863224966
Gnomadrs863224966
Varsomers863224966
Maprs863224966
PheGenIrs863224966
Biobankrs863224966
1000 genomesrs863224966
hgdprs863224966
ensemblrs863224966
gopubmedrs863224966
geneviewrs863224966
scholarrs863224966
googlers863224966
pharmgkbrs863224966
gwascentralrs863224966
openSNPrs863224966
23andMers863224966
23andMe allrs863224966
SNP Nexus

SNPshotrs863224966
SNPdbers863224966
MSV3drs863224966
GWAS Ctlgrs863224966
Max Magnitude0
ClinVar
Risk rs863224966(CTT;CTT)
Alt rs863224966(CTT;CTT)
Reference Rs863224966(GATA;GATA)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy not provided
Variation info
Gene CAPN3
CLNDBN Limb-girdle muscular dystrophy, type 2A not provided
Reversed 0
HGVS NC_000015.9:g.42682232_42682235delGATAinsCTT
CLNSRC Quest Diagnostics
CLNACC RCV000201036.2, RCV000483993.1,