rs179489

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	5	Romano-Ward Long QT Syndrome
(C;T)	5	Romano-Ward Long QT Syndrome

Make rs179489(G;G)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2570652

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs179489
dbSNP (classic)	rs179489
ClinGen	rs179489
ebi	rs179489
HLI	rs179489
Exac	rs179489
Gnomad	rs179489
Varsome	rs179489
LitVar	rs179489
Map	rs179489
PheGenI	rs179489
Biobank	rs179489
1000 genomes	rs179489
hgdp	rs179489
ensembl	rs179489
geneview	rs179489
scholar	rs179489
google	rs179489
pharmgkb	rs179489
gwascentral	rs179489
openSNP	rs179489
23andMe	rs179489
SNPshot	rs179489
SNPdbe	rs179489
MSV3d	rs179489
GWAS Ctlg	rs179489

Max Magnitude

5

ClinVar
Risk	rs179489(G;G) rs179489(T;T)
Alt	rs179489(G;G) rs179489(T;T)
Reference	Rs179489(C;C)
Significance	Pathogenic
Disease	Long QT syndrome Congenital long QT syndrome not provided Long QT syndrome 1 Long QT syndrome
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome Congenital long QT syndrome not provided Long QT syndrome 1 Long QT syndrome, LQT1 subtype
Reversed	1
HGVS	NC_000011.9:g.2591882G>A; NC_000011.9:g.2591882G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000046066.3, RCV000057684.3, RCV000223900.1, RCV000234807.1, RCV000046067.2, RCV000057685.3, RCV000182077.3,