rs199472724

Orientation

plus

Stabilized

plus

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

Make rs199472724(T;T)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2572859

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472724
dbSNP (classic)	rs199472724
ClinGen	rs199472724
ebi	rs199472724
HLI	rs199472724
Exac	rs199472724
Gnomad	rs199472724
Varsome	rs199472724
LitVar	rs199472724
Map	rs199472724
PheGenI	rs199472724
Biobank	rs199472724
1000 genomes	rs199472724
hgdp	rs199472724
ensembl	rs199472724
geneview	rs199472724
scholar	rs199472724
google	rs199472724
pharmgkb	rs199472724
gwascentral	rs199472724
openSNP	rs199472724
23andMe	rs199472724
SNPshot	rs199472724
SNPdbe	rs199472724
MSV3d	rs199472724
GWAS Ctlg	rs199472724

Max Magnitude

5

ClinVar
Risk	rs199472724(T;T)
Alt	rs199472724(T;T)
Reference	Rs199472724(C;C)
Significance	Pathogenic
Disease	Long QT syndrome Congenital long QT syndrome not provided
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided
Reversed	0
HGVS	NC_000011.9:g.2594089C>T
CLNSRC	ClinVar
CLNACC	RCV000046129.2, RCV000057762.3, RCV000182115.1,