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rs116840793

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs116840793(A;A)
Make rs116840793(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745550
GeneCAV3, SSUH2
is asnp
is mentioned by
dbSNPrs116840793
ebirs116840793
HLIrs116840793
Exacrs116840793
Varsomers116840793
Maprs116840793
PheGenIrs116840793
hapmaprs116840793
1000 genomesrs116840793
hgdprs116840793
ensemblrs116840793
gopubmedrs116840793
geneviewrs116840793
scholarrs116840793
googlers116840793
pharmgkbrs116840793
gwascentralrs116840793
openSNPrs116840793
23andMers116840793
23andMe allrs116840793
SNP Nexus

SNPshotrs116840793
SNPdbers116840793
MSV3drs116840793
GWAS Ctlgrs116840793
Max Magnitude0
OMIM601253
Desc
Variant0015
Relatedalso
ClinVar
Risk rs116840793(A;A)
Alt rs116840793(A;A)
Reference rs116840793(G;G)
Significance Pathogenic
Disease Rippling muscle disease 2 not provided
Variation info
Gene SSUH2 CAV3
CLNDBN Rippling muscle disease 2 not provided
Reversed 0
HGVS NC_000003.11:g.8787236G>A
CLNSRC Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant
CLNACC RCV000008787.3, RCV000024416.1,


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


[PMID 16247063] Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation.