rs199472758

Orientation

plus

Stabilized

plus

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

Make rs199472758(C;T)

Make rs199472758(T;T)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2583526

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472758
dbSNP (classic)	rs199472758
ClinGen	rs199472758
ebi	rs199472758
HLI	rs199472758
Exac	rs199472758
Gnomad	rs199472758
Varsome	rs199472758
LitVar	rs199472758
Map	rs199472758
PheGenI	rs199472758
Biobank	rs199472758
1000 genomes	rs199472758
hgdp	rs199472758
ensembl	rs199472758
geneview	rs199472758
scholar	rs199472758
google	rs199472758
pharmgkb	rs199472758
gwascentral	rs199472758
openSNP	rs199472758
23andMe	rs199472758
SNPshot	rs199472758
SNPdbe	rs199472758
MSV3d	rs199472758
GWAS Ctlg	rs199472758

Max Magnitude

0

ClinVar
Risk	rs199472758(T;T)
Alt	rs199472758(T;T)
Reference	Rs199472758(C;C)
Significance	Probable-Pathogenic
Disease	Long QT syndrome Congenital long QT syndrome
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome Congenital long QT syndrome
Reversed	0
HGVS	NC_000011.9:g.2604756C>T
CLNSRC	ClinVar
CLNACC	RCV000045928.3, RCV000057523.3,