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rs267606703

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs267606703(C;C)
Make rs267606703(C;G)
ReferenceGRCh38 38.1/141
Chromosome15
Position42394306
GeneCAPN3
is asnp
is mentioned by
dbSNPrs267606703
ebirs267606703
HLIrs267606703
Exacrs267606703
Varsomers267606703
Maprs267606703
PheGenIrs267606703
hapmaprs267606703
1000 genomesrs267606703
hgdprs267606703
ensemblrs267606703
gopubmedrs267606703
geneviewrs267606703
scholarrs267606703
googlers267606703
pharmgkbrs267606703
gwascentralrs267606703
openSNPrs267606703
23andMers267606703
23andMe allrs267606703
SNP Nexus

SNPshotrs267606703
SNPdbers267606703
MSV3drs267606703
GWAS Ctlgrs267606703
Max Magnitude0
ClinVar
Risk rs267606703(C;C)
Alt rs267606703(C;C)
Reference rs267606703(G;G)
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.42686504G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000019186.29,