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rs398123149

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs398123149(-;-)
Make rs398123149(-;T)
ReferenceGRCh38 38.1/141
Chromosome15
Position42387834
GeneCAPN3
is asnp
is mentioned by
dbSNPrs398123149
ebirs398123149
HLIrs398123149
Exacrs398123149
Varsomers398123149
Maprs398123149
PheGenIrs398123149
hapmaprs398123149
1000 genomesrs398123149
hgdprs398123149
ensemblrs398123149
gopubmedrs398123149
geneviewrs398123149
scholarrs398123149
googlers398123149
pharmgkbrs398123149
gwascentralrs398123149
openSNPrs398123149
23andMers398123149
23andMe allrs398123149
SNP Nexus

SNPshotrs398123149
SNPdbers398123149
MSV3drs398123149
GWAS Ctlgrs398123149
Max Magnitude0
ClinVar
Risk rs398123149(;)
Alt rs398123149(;)
Reference rs398123149(T;T)
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.42680032delT
CLNSRC ClinVar
CLNACC RCV000078100.3, RCV000178032.1,