rs199473397

Orientation

plus

Stabilized

plus

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

Make rs199473397(C;C)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2570701

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199473397
dbSNP (classic)	rs199473397
ClinGen	rs199473397
ebi	rs199473397
HLI	rs199473397
Exac	rs199473397
Gnomad	rs199473397
Varsome	rs199473397
LitVar	rs199473397
Map	rs199473397
PheGenI	rs199473397
Biobank	rs199473397
1000 genomes	rs199473397
hgdp	rs199473397
ensembl	rs199473397
geneview	rs199473397
scholar	rs199473397
google	rs199473397
pharmgkb	rs199473397
gwascentral	rs199473397
openSNP	rs199473397
23andMe	rs199473397
SNPshot	rs199473397
SNPdbe	rs199473397
MSV3d	rs199473397
GWAS Ctlg	rs199473397

Max Magnitude

5

ClinVar
Risk	rs199473397(C;C)
Alt	rs199473397(C;C)
Reference	Rs199473397(A;A)
Significance	Untested
Disease	Long QT syndrome Congenital long QT syndrome
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome, LQT1 subtype Congenital long QT syndrome
Reversed	0
HGVS	NC_000011.9:g.2591931A>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000046079.2, RCV000057698.3,