rs199472709

Orientation

plus

Stabilized

plus

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

Make rs199472709(A;A)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2572021

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472709
dbSNP (classic)	rs199472709
ClinGen	rs199472709
ebi	rs199472709
HLI	rs199472709
Exac	rs199472709
Gnomad	rs199472709
Varsome	rs199472709
LitVar	rs199472709
Map	rs199472709
PheGenI	rs199472709
Biobank	rs199472709
1000 genomes	rs199472709
hgdp	rs199472709
ensembl	rs199472709
geneview	rs199472709
scholar	rs199472709
google	rs199472709
pharmgkb	rs199472709
gwascentral	rs199472709
openSNP	rs199472709
23andMe	rs199472709
SNPshot	rs199472709
SNPdbe	rs199472709
MSV3d	rs199472709
GWAS Ctlg	rs199472709

Max Magnitude

5

aka c.311G>A (p.Arg104His); also known as R231H and Arg231His

This mutation is considered to be a dominantly inherited mutation leading to either Long QT syndrome or very early-onset atrial fibrillation; see OMIM 607542.0043 and also [PMID 31638414]

ClinVar
Risk	rs199472709(A;A)
Alt	rs199472709(A;A)
Reference	Rs199472709(G;G)
Significance	Pathogenic
Disease	Long QT syndrome Congenital long QT syndrome Atrial fibrillation Long QT syndrome 1 not provided
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome Congenital long QT syndrome Atrial fibrillation, familial, 3 Long QT syndrome 1 not provided
Reversed	0
HGVS	NC_000011.9:g.2593251G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000046107.5, RCV000057734.3, RCV000115007.3, RCV000115008.3, RCV000182101.2,