rs116840798

Orientation

plus

Stabilized

plus

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

Make rs116840798(A;C)

Make rs116840798(C;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

8745598

Gene	CAV3, SSUH2

is a	snp
is	mentioned by
dbSNP	rs116840798
dbSNP (classic)	rs116840798
ClinGen	rs116840798
ebi	rs116840798
HLI	rs116840798
Exac	rs116840798
Gnomad	rs116840798
Varsome	rs116840798
LitVar	rs116840798
Map	rs116840798
PheGenI	rs116840798
Biobank	rs116840798
1000 genomes	rs116840798
hgdp	rs116840798
ensembl	rs116840798
geneview	rs116840798
scholar	rs116840798
google	rs116840798
pharmgkb	rs116840798
gwascentral	rs116840798
openSNP	rs116840798
23andMe	rs116840798
SNPshot	rs116840798
SNPdbe	rs116840798
MSV3d	rs116840798
GWAS Ctlg	rs116840798

Max Magnitude

0

ClinVar
Risk	rs116840798(C;C)
Alt	rs116840798(C;C)
Reference	Rs116840798(A;A)
Significance	Pathogenic
Disease	Limb-girdle muscular dystrophy
Variation	info
Gene	CAV3
CLNDBN	Limb-girdle muscular dystrophy, type 1C
Reversed	0
HGVS	NC_000003.11:g.8787284A>C
CLNSRC
CLNACC

[PMID 11532985] The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.

OMIM	607801
Desc
Variant
Related	also