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

rs104893714

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in complete genomics
Make rs104893714(G;G)
Make rs104893714(G;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745701
GeneCAV3, SSUH2
is asnp
is mentioned by
dbSNPrs104893714
ebirs104893714
HLIrs104893714
Exacrs104893714
Varsomers104893714
Maprs104893714
PheGenIrs104893714
hapmaprs104893714
1000 genomesrs104893714
hgdprs104893714
ensemblrs104893714
gopubmedrs104893714
geneviewrs104893714
scholarrs104893714
googlers104893714
pharmgkbrs104893714
gwascentralrs104893714
openSNPrs104893714
23andMers104893714
23andMe allrs104893714
SNP Nexus

SNPshotrs104893714
SNPdbers104893714
MSV3drs104893714
GWAS Ctlgrs104893714
Max Magnitude0
OMIM601253
Desc
Variant0017
Relatedalso
ClinVar
Risk rs104893714(G;G)
Alt rs104893714(G;G)
Reference rs104893714(T;T)
Significance Other
Disease Long QT syndrome 9 not provided
Variation info
Gene SSUH2 CAV3
CLNDBN Long QT syndrome 9, acquired, susceptibility to not provided
Reversed 0
HGVS NC_000003.11:g.8787387T>G
CLNSRC Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant
CLNACC RCV000008789.2, RCV000024431.1,


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