rs104893713

Orientation

plus

Stabilized

plus

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

Make rs104893713(C;G)

Make rs104893713(G;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

8745834

Gene	CAV3, SSUH2

is a	snp
is	mentioned by
dbSNP	rs104893713
dbSNP (classic)	rs104893713
ClinGen	rs104893713
ebi	rs104893713
HLI	rs104893713
Exac	rs104893713
Gnomad	rs104893713
Varsome	rs104893713
LitVar	rs104893713
Map	rs104893713
PheGenI	rs104893713
Biobank	rs104893713
1000 genomes	rs104893713
hgdp	rs104893713
ensembl	rs104893713
geneview	rs104893713
scholar	rs104893713
google	rs104893713
pharmgkb	rs104893713
gwascentral	rs104893713
openSNP	rs104893713
23andMe	rs104893713
SNPshot	rs104893713
SNPdbe	rs104893713
MSV3d	rs104893713
GWAS Ctlg	rs104893713

Max Magnitude

0

OMIM	601253
Desc
Variant	0016
Related	also

ClinVar
Risk	rs104893713(G;G)
Alt	rs104893713(G;G)
Reference	Rs104893713(C;C)
Significance	Pathogenic
Disease	Long QT syndrome 9 not provided
Variation	info
Gene	SSUH2 CAV3
CLNDBN	Long QT syndrome 9 not provided
Reversed	0
HGVS	NC_000003.11:g.8787520C>G
CLNSRC	Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008788.3, RCV000024432.1,

[PMID 17060380] Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.