rs116840800

Merged into

rs199476331

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(CACCACCTT;CACCACCTT)	0	common in clinvar

Make rs116840800(-;-)

Make rs116840800(-;CACCACCTT)

Reference

GRCh38 38.1/141

Chromosome

3

Position

8745597

Gene	CAV3, SSUH2

is a	snp
is	mentioned by
dbSNP	rs116840800
dbSNP (classic)	rs116840800
ClinGen	rs116840800
ebi	rs116840800
HLI	rs116840800
Exac	rs116840800
Gnomad	rs116840800
Varsome	rs116840800
LitVar	rs116840800
Map	rs116840800
PheGenI	rs116840800
Biobank	rs116840800
1000 genomes	rs116840800
hgdp	rs116840800
ensembl	rs116840800
geneview	rs116840800
scholar	rs116840800
google	rs116840800
pharmgkb	rs116840800
gwascentral	rs116840800
openSNP	rs116840800
23andMe	rs116840800
SNPshot	rs116840800
SNPdbe	rs116840800
MSV3d	rs116840800
GWAS Ctlg	rs116840800

Status

Merged into rs199476331

Max Magnitude

0

OMIM	601253
Desc
Variant	0002
Related	also

ClinVar
Risk
Alt
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.