rs199472716

Orientation

plus

Stabilized

plus

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

Make rs199472716(C;C)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2572081

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472716
dbSNP (classic)	rs199472716
ClinGen	rs199472716
ebi	rs199472716
HLI	rs199472716
Exac	rs199472716
Gnomad	rs199472716
Varsome	rs199472716
LitVar	rs199472716
Map	rs199472716
PheGenI	rs199472716
Biobank	rs199472716
1000 genomes	rs199472716
hgdp	rs199472716
ensembl	rs199472716
geneview	rs199472716
scholar	rs199472716
google	rs199472716
pharmgkb	rs199472716
gwascentral	rs199472716
openSNP	rs199472716
23andMe	rs199472716
SNPshot	rs199472716
SNPdbe	rs199472716
MSV3d	rs199472716
GWAS Ctlg	rs199472716

Max Magnitude

0

ClinVar
Risk	rs199472716(C;C)
Alt	rs199472716(C;C)
Reference	Rs199472716(T;T)
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.2593311T>C
CLNSRC	ClinVar
CLNACC	RCV000046117.2, RCV000057748.3, RCV000182106.1,