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rs116840800

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CACCACCTT;CACCACCTT) 0 common in clinvar
Make rs116840800(-;-)
Make rs116840800(-;CACCACCTT)
ReferenceGRCh38 38.1/141
Chromosome3
Position8745597
GeneCAV3, SSUH2
is asnp
is mentioned by
dbSNPrs116840800
ebirs116840800
HLIrs116840800
Exacrs116840800
Varsomers116840800
Maprs116840800
PheGenIrs116840800
hapmaprs116840800
1000 genomesrs116840800
hgdprs116840800
ensemblrs116840800
gopubmedrs116840800
geneviewrs116840800
scholarrs116840800
googlers116840800
pharmgkbrs116840800
gwascentralrs116840800
openSNPrs116840800
23andMers116840800
23andMe allrs116840800
SNP Nexus

SNPshotrs116840800
SNPdbers116840800
MSV3drs116840800
GWAS Ctlgrs116840800
Max Magnitude0
OMIM601253
Desc
Variant0002
Relatedalso
ClinVar
Risk rs116840800(;)
Alt rs116840800(;)
Reference rs116840800(CACCACCTT;CACCACCTT)
Significance Pathogenic
Disease Limb-girdle muscular dystrophy not provided
Variation info
Gene CAV3
CLNDBN Limb-girdle muscular dystrophy, type 1C not provided
Reversed 0
HGVS NC_000003.11:g.8787283_8787291delCACCACCTT
CLNSRC Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant
CLNACC RCV000008767.2, RCV000024380.1,


[PMID 9537420] Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.