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rs797045427

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797045427(-;CC)
Make rs797045427(CC;CC)
ReferenceGRCh38.p2 38.2/146
Chromosome15
Position42384501
GeneCAPN3, LOC105370794
is asnp
is mentioned by
dbSNPrs797045427
ClinGenrs797045427
ebirs797045427
HLIrs797045427
Exacrs797045427
Varsomers797045427
Maprs797045427
PheGenIrs797045427
hapmaprs797045427
1000 genomesrs797045427
hgdprs797045427
ensemblrs797045427
gopubmedrs797045427
geneviewrs797045427
scholarrs797045427
googlers797045427
pharmgkbrs797045427
gwascentralrs797045427
openSNPrs797045427
23andMers797045427
23andMe allrs797045427
SNP Nexus

SNPshotrs797045427
SNPdbers797045427
MSV3drs797045427
GWAS Ctlgrs797045427
Max Magnitude0
ClinVar
Risk rs797045427(CC;CC)
Alt rs797045427(CC;CC)
Reference Rs797045427(-;-)
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.42676698_42676699dupCC
CLNSRC
CLNACC RCV000192648.2,