Have questions? Visit https://www.reddit.com/r/SNPedia

rs121909280

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121909280(C;G)
Make rs121909280(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745602
GeneCAV3, SSUH2
is asnp
is mentioned by
dbSNPrs121909280
ebirs121909280
HLIrs121909280
Exacrs121909280
Varsomers121909280
Maprs121909280
PheGenIrs121909280
hapmaprs121909280
1000 genomesrs121909280
hgdprs121909280
ensemblrs121909280
gopubmedrs121909280
geneviewrs121909280
scholarrs121909280
googlers121909280
pharmgkbrs121909280
gwascentralrs121909280
openSNPrs121909280
23andMers121909280
23andMe allrs121909280
SNP Nexus

SNPshotrs121909280
SNPdbers121909280
MSV3drs121909280
GWAS Ctlgrs121909280
Max Magnitude0
OMIM601253
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121909280(G;G)
Alt rs121909280(G;G)
Reference rs121909280(C;C)
Significance Pathogenic
Disease Primary familial hypertrophic cardiomyopathy not provided
Variation info
Gene SSUH2 CAV3
CLNDBN Primary familial hypertrophic cardiomyopathy not provided
Reversed 0
HGVS NC_000003.11:g.8787288C>G
CLNSRC Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant
CLNACC RCV000008785.3, RCV000024395.1,


[PMID 14672715] Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy.