rs199472760

Orientation

plus

Stabilized

plus

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

Make rs199472760(C;T)

Make rs199472760(T;T)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2583537

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472760
dbSNP (classic)	rs199472760
ClinGen	rs199472760
ebi	rs199472760
HLI	rs199472760
Exac	rs199472760
Gnomad	rs199472760
Varsome	rs199472760
LitVar	rs199472760
Map	rs199472760
PheGenI	rs199472760
Biobank	rs199472760
1000 genomes	rs199472760
hgdp	rs199472760
ensembl	rs199472760
geneview	rs199472760
scholar	rs199472760
google	rs199472760
pharmgkb	rs199472760
gwascentral	rs199472760
openSNP	rs199472760
23andMe	rs199472760
SNPshot	rs199472760
SNPdbe	rs199472760
MSV3d	rs199472760
GWAS Ctlg	rs199472760

Max Magnitude

0

ClinVar
Risk	rs199472760(T;T)
Alt	rs199472760(T;T)
Reference	Rs199472760(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.2604767C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000045934.2, RCV000057529.3, RCV000182312.1,