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rs869312852

From SNPedia

Orientationplus
Geno Mag Summary
(CATTGA;CATTGA) 0 common in clinvar
Make rs869312852(-;-)
Make rs869312852(-;CATTGA)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position42389090
GeneCAPN3
is asnp
is mentioned by
dbSNPrs869312852
ebirs869312852
HLIrs869312852
Exacrs869312852
Varsomers869312852
Maprs869312852
PheGenIrs869312852
hapmaprs869312852
1000 genomesrs869312852
hgdprs869312852
ensemblrs869312852
gopubmedrs869312852
geneviewrs869312852
scholarrs869312852
googlers869312852
pharmgkbrs869312852
gwascentralrs869312852
openSNPrs869312852
23andMers869312852
23andMe allrs869312852
SNP Nexus

SNPshotrs869312852
SNPdbers869312852
MSV3drs869312852
GWAS Ctlgrs869312852
Max Magnitude0
ClinVar
Risk rs869312852(;)
Alt rs869312852(;)
Reference rs869312852(CATTGA;CATTGA)
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.42681288_42681293delCATTGA
CLNSRC
CLNACC RCV000210431.1,