rs199472793

Orientation

plus

Stabilized

plus

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

Make rs199472793(C;T)

Make rs199472793(T;T)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2775966

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472793
dbSNP (classic)	rs199472793
ClinGen	rs199472793
ebi	rs199472793
HLI	rs199472793
Exac	rs199472793
Gnomad	rs199472793
Varsome	rs199472793
LitVar	rs199472793
Map	rs199472793
PheGenI	rs199472793
Biobank	rs199472793
1000 genomes	rs199472793
hgdp	rs199472793
ensembl	rs199472793
geneview	rs199472793
scholar	rs199472793
google	rs199472793
pharmgkb	rs199472793
gwascentral	rs199472793
openSNP	rs199472793
23andMe	rs199472793
SNPshot	rs199472793
SNPdbe	rs199472793
MSV3d	rs199472793
GWAS Ctlg	rs199472793

Max Magnitude

0

ClinVar
Risk	rs199472793(T;T)
Alt	rs199472793(T;T)
Reference	Rs199472793(C;C)
Significance	Pathogenic
Disease	Congenital long QT syndrome Long QT syndrome 1 Long QT syndrome
Variation	info
Gene	KCNQ1
CLNDBN	Congenital long QT syndrome Long QT syndrome 1 Long QT syndrome
Reversed	0
HGVS	NC_000011.9:g.2797196C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000057603.3, RCV000234802.1, RCV000456908.1,