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rs398123146

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398123146(-;-)
Make rs398123146(-;T)
Make rs398123146(T;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position42360028
GeneCAPN3
is asnp
is mentioned by
dbSNPrs398123146
ebirs398123146
HLIrs398123146
Exacrs398123146
Varsomers398123146
Maprs398123146
PheGenIrs398123146
hapmaprs398123146
1000 genomesrs398123146
hgdprs398123146
ensemblrs398123146
gopubmedrs398123146
geneviewrs398123146
scholarrs398123146
googlers398123146
pharmgkbrs398123146
gwascentralrs398123146
openSNPrs398123146
23andMers398123146
23andMe allrs398123146
SNP Nexus

SNPshotrs398123146
SNPdbers398123146
MSV3drs398123146
GWAS Ctlgrs398123146
Max Magnitude0
ClinVar
Risk rs398123146(T;T)
Alt rs398123146(T;T)
Reference rs398123146(;)
Significance Pathogenic
Disease not provided Limb-girdle muscular dystrophy
Variation info
Gene CAPN3
CLNDBN not provided Limb-girdle muscular dystrophy, type 2A
Reversed 0
HGVS NC_000015.9:g.42652226dupT
CLNSRC ClinVar
CLNACC RCV000078092.3, RCV000173057.1, RCV000231993.1,