rs199472681

Orientation

plus

Stabilized

plus

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

Make rs199472681(A;A)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2445463

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472681
dbSNP (classic)	rs199472681
ClinGen	rs199472681
ebi	rs199472681
HLI	rs199472681
Exac	rs199472681
Gnomad	rs199472681
Varsome	rs199472681
LitVar	rs199472681
Map	rs199472681
PheGenI	rs199472681
Biobank	rs199472681
1000 genomes	rs199472681
hgdp	rs199472681
ensembl	rs199472681
geneview	rs199472681
scholar	rs199472681
google	rs199472681
pharmgkb	rs199472681
gwascentral	rs199472681
openSNP	rs199472681
23andMe	rs199472681
SNPshot	rs199472681
SNPdbe	rs199472681
MSV3d	rs199472681
GWAS Ctlg	rs199472681

Max Magnitude

5

ClinVar
Risk	rs199472681(A;A)
Alt	rs199472681(A;A)
Reference	Rs199472681(G;G)
Significance	Pathogenic
Disease	Long QT syndrome Congenital long QT syndrome not provided
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided
Reversed	0
HGVS	NC_000011.9:g.2466693G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000046053.2, RCV000057664.3, RCV000182262.1,