rs199472789

Orientation

plus

Stabilized

plus

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

Make rs199472789(C;C)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2768894

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472789
dbSNP (classic)	rs199472789
ClinGen	rs199472789
ebi	rs199472789
HLI	rs199472789
Exac	rs199472789
Gnomad	rs199472789
Varsome	rs199472789
LitVar	rs199472789
Map	rs199472789
PheGenI	rs199472789
Biobank	rs199472789
1000 genomes	rs199472789
hgdp	rs199472789
ensembl	rs199472789
geneview	rs199472789
scholar	rs199472789
google	rs199472789
pharmgkb	rs199472789
gwascentral	rs199472789
openSNP	rs199472789
23andMe	rs199472789
SNPshot	rs199472789
SNPdbe	rs199472789
MSV3d	rs199472789
GWAS Ctlg	rs199472789

Max Magnitude

5

ClinVar
Risk	rs199472789(C;C)
Alt	rs199472789(C;C)
Reference	Rs199472789(A;A)
Significance	Pathogenic
Disease	Congenital long QT syndrome not provided
Variation	info
Gene	KCNQ1
CLNDBN	Congenital long QT syndrome not provided
Reversed	0
HGVS	NC_000011.9:g.2790124A>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000057598.3, RCV000182200.2,