rs199472804

Orientation

plus

Stabilized

plus

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

Make rs199472804(C;T)

Make rs199472804(T;T)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2776997

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472804
dbSNP (classic)	rs199472804
ClinGen	rs199472804
ebi	rs199472804
HLI	rs199472804
Exac	rs199472804
Gnomad	rs199472804
Varsome	rs199472804
LitVar	rs199472804
Map	rs199472804
PheGenI	rs199472804
Biobank	rs199472804
1000 genomes	rs199472804
hgdp	rs199472804
ensembl	rs199472804
geneview	rs199472804
scholar	rs199472804
google	rs199472804
pharmgkb	rs199472804
gwascentral	rs199472804
openSNP	rs199472804
23andMe	rs199472804
SNPshot	rs199472804
SNPdbe	rs199472804
MSV3d	rs199472804
GWAS Ctlg	rs199472804

Max Magnitude

0

ClinVar
Risk	rs199472804(A;A) rs199472804(T;T)
Alt	rs199472804(A;A) rs199472804(T;T)
Reference	Rs199472804(C;C)
Significance	Probable-Pathogenic
Disease	Long QT syndrome Congenital long QT syndrome not provided Long QT syndrome 1
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome Congenital long QT syndrome not provided Long QT syndrome 1
Reversed	0
HGVS	NC_000011.9:g.2798227C>A; NC_000011.9:g.2798227C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000046014.3, RCV000057618.3, RCV000046015.4, RCV000057619.3, RCV000223686.1, RCV000477954.1,