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rs116840801

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs116840801(C;C)
Make rs116840801(C;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745668
GeneCAV3
is asnp
is mentioned by
dbSNPrs116840801
ebirs116840801
HLIrs116840801
Exacrs116840801
Varsomers116840801
Maprs116840801
PheGenIrs116840801
hapmaprs116840801
1000 genomesrs116840801
hgdprs116840801
ensemblrs116840801
gopubmedrs116840801
geneviewrs116840801
scholarrs116840801
googlers116840801
pharmgkbrs116840801
gwascentralrs116840801
openSNPrs116840801
23andMers116840801
23andMe allrs116840801
SNP Nexus

SNPshotrs116840801
SNPdbers116840801
MSV3drs116840801
GWAS Ctlgrs116840801
Max Magnitude0
ClinVar
Risk rs116840801(C;C)
Alt rs116840801(C;C)
Reference rs116840801(T;T)
Significance Pathogenic
Disease Rippling muscle disease
Variation info
Gene CAV3
CLNDBN Rippling muscle disease
Reversed 0
HGVS NC_000003.11:g.8787354T>C
CLNSRC
CLNACC


[PMID 12666119] Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.

OMIM606072
Desc
Variant
Relatedalso