rs104893715

Orientation

plus

Stabilized

plus

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

Make rs104893715(A;A)

Make rs104893715(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

8745664

Gene	CAV3, SSUH2

is a	snp
is	mentioned by
dbSNP	rs104893715
dbSNP (classic)	rs104893715
ClinGen	rs104893715
ebi	rs104893715
HLI	rs104893715
Exac	rs104893715
Gnomad	rs104893715
Varsome	rs104893715
LitVar	rs104893715
Map	rs104893715
PheGenI	rs104893715
Biobank	rs104893715
1000 genomes	rs104893715
hgdp	rs104893715
ensembl	rs104893715
geneview	rs104893715
scholar	rs104893715
google	rs104893715
pharmgkb	rs104893715
gwascentral	rs104893715
openSNP	rs104893715
23andMe	rs104893715
SNPshot	rs104893715
SNPdbe	rs104893715
MSV3d	rs104893715
GWAS Ctlg	rs104893715

Max Magnitude

0

OMIM	601253
Desc
Variant	0019
Related	also

ClinVar
Risk	rs104893715(A;A)
Alt	rs104893715(A;A)
Reference	Rs104893715(G;G)
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.8787350G>A
CLNSRC	Leiden Muscular Dystrophy pages (CAV3) OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000008792.3, RCV000024430.1,

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