rs116840773

Orientation

plus

Stabilized

plus

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

Make rs116840773(A;A)

Make rs116840773(A;C)

Reference

GRCh38 38.1/141

Chromosome

3

Position

8745548

Gene	CAV3, SSUH2

is a	snp
is	mentioned by
dbSNP	rs116840773
dbSNP (classic)	rs116840773
ClinGen	rs116840773
ebi	rs116840773
HLI	rs116840773
Exac	rs116840773
Gnomad	rs116840773
Varsome	rs116840773
LitVar	rs116840773
Map	rs116840773
PheGenI	rs116840773
Biobank	rs116840773
1000 genomes	rs116840773
hgdp	rs116840773
ensembl	rs116840773
geneview	rs116840773
scholar	rs116840773
google	rs116840773
pharmgkb	rs116840773
gwascentral	rs116840773
openSNP	rs116840773
23andMe	rs116840773
SNPshot	rs116840773
SNPdbe	rs116840773
MSV3d	rs116840773
GWAS Ctlg	rs116840773

Merged from

Rs121909277

Max Magnitude

0

OMIM	601253
Desc
Variant	0006
Related	also

ClinVar
Risk	rs116840773(A;A) rs116840773(T;T)
Alt	rs116840773(A;A) rs116840773(T;T)
Reference	Rs116840773(C;C)
Significance	Pathogenic
Disease	not provided Rippling muscle disease 2 Distal myopathy
Variation	info
Gene	SSUH2 CAV3
CLNDBN	not provided Rippling muscle disease 2 Distal myopathy, Tateyama type
Reversed	0
HGVS	NC_000003.11:g.8787234C>A; NC_000003.11:g.8787234C>T
CLNSRC	Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000024424.1, RCV000008775.4, RCV000024383.1, RCV000344705.1,

[PMID 2705900] Rippling muscle disease.

[PMID 11431690] Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.

[PMID 19773168] Rippling muscle disease and cardiomyopathy associated with a mutation in the CAV3 gene.