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rs121909282

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121909282(G;G)
Make rs121909282(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745647
GeneCAV3, SSUH2
is asnp
is mentioned by
dbSNPrs121909282
ebirs121909282
HLIrs121909282
Exacrs121909282
Varsomers121909282
Maprs121909282
PheGenIrs121909282
hapmaprs121909282
1000 genomesrs121909282
hgdprs121909282
ensemblrs121909282
gopubmedrs121909282
geneviewrs121909282
scholarrs121909282
googlers121909282
pharmgkbrs121909282
gwascentralrs121909282
openSNPrs121909282
23andMers121909282
23andMe allrs121909282
SNP Nexus

SNPshotrs121909282
SNPdbers121909282
MSV3drs121909282
GWAS Ctlgrs121909282
Max Magnitude0
OMIM601253
Desc
Variant0021
Relatedalso
ClinVar
Risk rs121909282(G;G)
Alt rs121909282(G;G)
Reference rs121909282(T;T)
Significance Pathogenic
Disease Long QT syndrome 9 not provided
Variation info
Gene SSUH2 CAV3
CLNDBN Long QT syndrome 9 not provided
Reversed 0
HGVS NC_000003.11:g.8787333T>G
CLNSRC Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant
CLNACC RCV000008794.2, RCV000024434.1,


[PMID 17275750OA-icon.png] Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.