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rs116840795

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs116840795(A;A)
Make rs116840795(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745580
GeneCAV3
is asnp
is mentioned by
dbSNPrs116840795
ebirs116840795
HLIrs116840795
Exacrs116840795
Varsomers116840795
Maprs116840795
PheGenIrs116840795
hapmaprs116840795
1000 genomesrs116840795
hgdprs116840795
ensemblrs116840795
gopubmedrs116840795
geneviewrs116840795
scholarrs116840795
googlers116840795
pharmgkbrs116840795
gwascentralrs116840795
openSNPrs116840795
23andMers116840795
23andMe allrs116840795
SNP Nexus

SNPshotrs116840795
SNPdbers116840795
MSV3drs116840795
GWAS Ctlgrs116840795
Max Magnitude0
ClinVar
Risk rs116840795(A;A)
Alt rs116840795(A;A)
Reference rs116840795(G;G)
Significance Untested
Disease not provided
Variation info
Gene SSUH2 CAV3
CLNDBN not provided
Reversed 0
HGVS NC_000003.11:g.8787266G>A
CLNSRC Leiden Muscular Dystrophy pages (CAV3)
CLNACC RCV000024391.1,


[PMID 15099591] A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.

OMIM123320
Desc
Variant
Relatedalso