rs199472708

Orientation

plus

Stabilized

plus

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

Make rs199472708(A;A)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2572015

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472708
dbSNP (classic)	rs199472708
ClinGen	rs199472708
ebi	rs199472708
HLI	rs199472708
Exac	rs199472708
Gnomad	rs199472708
Varsome	rs199472708
LitVar	rs199472708
Map	rs199472708
PheGenI	rs199472708
Biobank	rs199472708
1000 genomes	rs199472708
hgdp	rs199472708
ensembl	rs199472708
geneview	rs199472708
scholar	rs199472708
google	rs199472708
pharmgkb	rs199472708
gwascentral	rs199472708
openSNP	rs199472708
23andMe	rs199472708
SNPshot	rs199472708
SNPdbe	rs199472708
MSV3d	rs199472708
GWAS Ctlg	rs199472708

Max Magnitude

5

ClinVar
Risk	rs199472708(A;A)
Alt	rs199472708(A;A)
Reference	Rs199472708(G;G)
Significance	Pathogenic
Disease	Long QT syndrome Congenital long QT syndrome Atrial fibrillation not provided
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome, LQT1 subtype Congenital long QT syndrome Atrial fibrillation, familial, 3 not provided
Reversed	0
HGVS	NC_000011.9:g.2593245G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000046105.2, RCV000057732.3, RCV000115009.3, RCV000182099.1,