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rs398123150

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs398123150(-;-)
Make rs398123150(-;GTTGATTGCA)
Make rs398123150(GTTGATTGCA;GTTGATTGCA)
ReferenceGRCh38 38.1/141
Chromosome15
Position42390015
GeneCAPN3
is asnp
is mentioned by
dbSNPrs398123150
ebirs398123150
HLIrs398123150
Exacrs398123150
Varsomers398123150
Maprs398123150
PheGenIrs398123150
hapmaprs398123150
1000 genomesrs398123150
hgdprs398123150
ensemblrs398123150
gopubmedrs398123150
geneviewrs398123150
scholarrs398123150
googlers398123150
pharmgkbrs398123150
gwascentralrs398123150
openSNPrs398123150
23andMers398123150
23andMe allrs398123150
SNP Nexus

SNPshotrs398123150
SNPdbers398123150
MSV3drs398123150
GWAS Ctlgrs398123150
Max Magnitude0
ClinVar
Risk rs398123150(AGTTGATTGC;AGTTGATTGC)
Alt rs398123150(AGTTGATTGC;AGTTGATTGC)
Reference rs398123150(;)
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.42682204_42682213dupGTTGATTGCA
CLNSRC ClinVar
CLNACC RCV000078103.3, RCV000179249.1,