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

rs104893715

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104893715(A;A)
Make rs104893715(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745664
GeneCAV3, SSUH2
is asnp
is mentioned by
dbSNPrs104893715
ebirs104893715
HLIrs104893715
Exacrs104893715
Varsomers104893715
Maprs104893715
PheGenIrs104893715
hapmaprs104893715
1000 genomesrs104893715
hgdprs104893715
ensemblrs104893715
gopubmedrs104893715
geneviewrs104893715
scholarrs104893715
googlers104893715
pharmgkbrs104893715
gwascentralrs104893715
openSNPrs104893715
23andMers104893715
23andMe allrs104893715
SNP Nexus

SNPshotrs104893715
SNPdbers104893715
MSV3drs104893715
GWAS Ctlgrs104893715
Max Magnitude0
OMIM601253
Desc
Variant0019
Relatedalso
ClinVar
Risk rs104893715(A;A)
Alt rs104893715(A;A)
Reference rs104893715(G;G)
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.8787350G>A
CLNSRC Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant
CLNACC RCV000008792.3, RCV000024430.1,


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