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rs121909281

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121909281(C;C)
Make rs121909281(C;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position8733916
GeneCAV3, SSUH2
is asnp
is mentioned by
dbSNPrs121909281
ebirs121909281
HLIrs121909281
Exacrs121909281
Varsomers121909281
Maprs121909281
PheGenIrs121909281
hapmaprs121909281
1000 genomesrs121909281
hgdprs121909281
ensemblrs121909281
gopubmedrs121909281
geneviewrs121909281
scholarrs121909281
googlers121909281
pharmgkbrs121909281
gwascentralrs121909281
openSNPrs121909281
23andMers121909281
23andMe allrs121909281
SNP Nexus

SNPshotrs121909281
SNPdbers121909281
MSV3drs121909281
GWAS Ctlgrs121909281
GMAF0.001377
Max Magnitude0
OMIM601253
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121909281(A,C;A,C)
Alt rs121909281(A,C;A,C)
Reference rs121909281(G;G)
Significance Pathogenic
Disease not specified Cardiomyopathy Long QT syndrome 9 not provided
Variation info
Gene SSUH2 CAV3
CLNDBN not specified Cardiomyopathy Long QT syndrome 9 not provided
Reversed 0
HGVS NC_000003.11:g.8775602G>A; NC_000003.11:g.8775602G>C
CLNSRC Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant
CLNACC RCV000150234.1, RCV000157834.1, RCV000008793.2, RCV000024433.1,


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