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

rs116840799

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116840799(C;G)
Make rs116840799(G;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745599
GeneCAV3, SSUH2
is asnp
is mentioned by
dbSNPrs116840799
ebirs116840799
HLIrs116840799
Exacrs116840799
Varsomers116840799
Maprs116840799
PheGenIrs116840799
hapmaprs116840799
1000 genomesrs116840799
hgdprs116840799
ensemblrs116840799
gopubmedrs116840799
geneviewrs116840799
scholarrs116840799
googlers116840799
pharmgkbrs116840799
gwascentralrs116840799
openSNPrs116840799
23andMers116840799
23andMe allrs116840799
SNP Nexus

SNPshotrs116840799
SNPdbers116840799
MSV3drs116840799
GWAS Ctlgrs116840799
Max Magnitude0
OMIM601253
Desc
Variant0013
Relatedalso
ClinVar
Risk rs116840799(G;G)
Alt rs116840799(G;G)
Reference rs116840799(C;C)
Significance Untested
Disease
Variation info
Gene CAV3
CLNDBN
Reversed 0
HGVS NC_000003.11:g.8787285C>G
CLNSRC
CLNACC


[PMID 14672715] Identification and functional analysis of a caveolin-3 mutation associated with familial hypertrophic cardiomyopathy.