rs199473394

Orientation

plus

Stabilized

plus

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

Make rs199473394(A;A)

Make rs199473394(A;G)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2570685

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199473394
dbSNP (classic)	rs199473394
ClinGen	rs199473394
ebi	rs199473394
HLI	rs199473394
Exac	rs199473394
Gnomad	rs199473394
Varsome	rs199473394
LitVar	rs199473394
Map	rs199473394
PheGenI	rs199473394
Biobank	rs199473394
1000 genomes	rs199473394
hgdp	rs199473394
ensembl	rs199473394
geneview	rs199473394
scholar	rs199473394
google	rs199473394
pharmgkb	rs199473394
gwascentral	rs199473394
openSNP	rs199473394
23andMe	rs199473394
SNPshot	rs199473394
SNPdbe	rs199473394
MSV3d	rs199473394
GWAS Ctlg	rs199473394

Max Magnitude

0

ClinVar
Risk	rs199473394(A;A)
Alt	rs199473394(A;A)
Reference	Rs199473394(G;G)
Significance	Pathogenic
Disease	Long QT syndrome Congenital long QT syndrome Long QT syndrome Long QT syndrome 1
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome, LQT1 subtype Congenital long QT syndrome Long QT syndrome Long QT syndrome 1
Reversed	0
HGVS	NC_000011.9:g.2591915G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000046078.2, RCV000057694.3, RCV000148544.1, RCV000234794.1,