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rs878854364

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs878854364(C;T)
Make rs878854364(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome15
Position42386226
GeneCAPN3, LOC105370794
is asnp
is mentioned by
dbSNPrs878854364
ebirs878854364
HLIrs878854364
Exacrs878854364
Varsomers878854364
Maprs878854364
PheGenIrs878854364
hapmaprs878854364
1000 genomesrs878854364
hgdprs878854364
ensemblrs878854364
gopubmedrs878854364
geneviewrs878854364
scholarrs878854364
googlers878854364
pharmgkbrs878854364
gwascentralrs878854364
openSNPrs878854364
23andMers878854364
23andMe allrs878854364
SNP Nexus

SNPshotrs878854364
SNPdbers878854364
MSV3drs878854364
GWAS Ctlgrs878854364
Max Magnitude0
ClinVar
Risk rs878854364(T;T)
Alt rs878854364(T;T)
Reference rs878854364(C;C)
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.42678424C>T
CLNSRC
CLNACC RCV000231993.1,