rs199472806

Orientation

plus

Stabilized

plus

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

Make rs199472806(C;C)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2777003

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472806
dbSNP (classic)	rs199472806
ClinGen	rs199472806
ebi	rs199472806
HLI	rs199472806
Exac	rs199472806
Gnomad	rs199472806
Varsome	rs199472806
LitVar	rs199472806
Map	rs199472806
PheGenI	rs199472806
Biobank	rs199472806
1000 genomes	rs199472806
hgdp	rs199472806
ensembl	rs199472806
geneview	rs199472806
scholar	rs199472806
google	rs199472806
pharmgkb	rs199472806
gwascentral	rs199472806
openSNP	rs199472806
23andMe	rs199472806
SNPshot	rs199472806
SNPdbe	rs199472806
MSV3d	rs199472806
GWAS Ctlg	rs199472806

Max Magnitude

5

ClinVar
Risk	rs199472806(C;C)
Alt	rs199472806(C;C)
Reference	Rs199472806(G;G)
Significance	Pathogenic
Disease	Long QT syndrome Congenital long QT syndrome Long QT syndrome 1
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome, LQT1 subtype Congenital long QT syndrome Long QT syndrome 1
Reversed	0
HGVS	NC_000011.9:g.2798233G>C
CLNSRC	ClinVar
CLNACC	RCV000046019.2, RCV000057623.3, RCV000239705.1,