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

rs116840796

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs116840796(A;A)
Make rs116840796(A;C)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745594
GeneCAV3
is asnp
is mentioned by
dbSNPrs116840796
ebirs116840796
HLIrs116840796
Exacrs116840796
Varsomers116840796
Maprs116840796
PheGenIrs116840796
hapmaprs116840796
1000 genomesrs116840796
hgdprs116840796
ensemblrs116840796
gopubmedrs116840796
geneviewrs116840796
scholarrs116840796
googlers116840796
pharmgkbrs116840796
gwascentralrs116840796
openSNPrs116840796
23andMers116840796
23andMe allrs116840796
SNP Nexus

SNPshotrs116840796
SNPdbers116840796
MSV3drs116840796
GWAS Ctlgrs116840796
Max Magnitude0
ClinVar
Risk rs116840796(A;A)
Alt rs116840796(A;A)
Reference rs116840796(C;C)
Significance Untested
Disease not provided
Variation info
Gene SSUH2 CAV3
CLNDBN not provided
Reversed 0
HGVS NC_000003.11:g.8787280C>A
CLNSRC Leiden Muscular Dystrophy pages (CAV3)
CLNACC RCV000024414.1,


[PMID 15580566] Molecular and muscle pathology in a series of caveolinopathy patients.