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rs104893713

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893713(C;G)
Make rs104893713(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745834
GeneCAV3, SSUH2
is asnp
is mentioned by
dbSNPrs104893713
ebirs104893713
HLIrs104893713
Exacrs104893713
Varsomers104893713
Maprs104893713
PheGenIrs104893713
hapmaprs104893713
1000 genomesrs104893713
hgdprs104893713
ensemblrs104893713
gopubmedrs104893713
geneviewrs104893713
scholarrs104893713
googlers104893713
pharmgkbrs104893713
gwascentralrs104893713
openSNPrs104893713
23andMers104893713
23andMe allrs104893713
SNP Nexus

SNPshotrs104893713
SNPdbers104893713
MSV3drs104893713
GWAS Ctlgrs104893713
Max Magnitude0
OMIM601253
Desc
Variant0016
Relatedalso
ClinVar
Risk rs104893713(G;G)
Alt rs104893713(G;G)
Reference rs104893713(C;C)
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.8787520C>G
CLNSRC Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant
CLNACC RCV000008788.3, RCV000024432.1,


[PMID 17060380] Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.