rs116840793

Orientation

plus

Stabilized

plus

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

Make rs116840793(A;A)

Make rs116840793(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

8745550

Gene	CAV3, SSUH2

is a	snp
is	mentioned by
dbSNP	rs116840793
dbSNP (classic)	rs116840793
ClinGen	rs116840793
ebi	rs116840793
HLI	rs116840793
Exac	rs116840793
Gnomad	rs116840793
Varsome	rs116840793
LitVar	rs116840793
Map	rs116840793
PheGenI	rs116840793
Biobank	rs116840793
1000 genomes	rs116840793
hgdp	rs116840793
ensembl	rs116840793
geneview	rs116840793
scholar	rs116840793
google	rs116840793
pharmgkb	rs116840793
gwascentral	rs116840793
openSNP	rs116840793
23andMe	rs116840793
SNPshot	rs116840793
SNPdbe	rs116840793
MSV3d	rs116840793
GWAS Ctlg	rs116840793

Max Magnitude

0

OMIM	601253
Desc
Variant	0015
Related	also

ClinVar
Risk	rs116840793(A;A)
Alt	rs116840793(A;A)
Reference	Rs116840793(G;G)
Significance	Pathogenic
Disease	Rippling muscle disease 2 not provided
Variation	info
Gene	SSUH2 CAV3
CLNDBN	Rippling muscle disease 2 not provided
Reversed	0
HGVS	NC_000003.11:g.8787236G>A
CLNSRC	Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant
CLNACC	RCV000008787.5, RCV000024416.1,

[PMID 15580566] Molecular and muscle pathology in a series of caveolinopathy patients.

[PMID 16247063] Early-onset toe walking in rippling muscle disease due to a new caveolin-3 gene mutation.