rs199472795

Orientation

plus

Stabilized

plus

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

Make rs199472795(T;T)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2775984

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472795
dbSNP (classic)	rs199472795
ClinGen	rs199472795
ebi	rs199472795
HLI	rs199472795
Exac	rs199472795
Gnomad	rs199472795
Varsome	rs199472795
LitVar	rs199472795
Map	rs199472795
PheGenI	rs199472795
Biobank	rs199472795
1000 genomes	rs199472795
hgdp	rs199472795
ensembl	rs199472795
geneview	rs199472795
scholar	rs199472795
google	rs199472795
pharmgkb	rs199472795
gwascentral	rs199472795
openSNP	rs199472795
23andMe	rs199472795
SNPshot	rs199472795
SNPdbe	rs199472795
MSV3d	rs199472795
GWAS Ctlg	rs199472795

Max Magnitude

5

ClinVar
Risk	rs199472795(T;T)
Alt	rs199472795(T;T)
Reference	Rs199472795(C;C)
Significance	Pathogenic
Disease	Long QT syndrome Congenital long QT syndrome not provided
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome Congenital long QT syndrome not provided
Reversed	0
HGVS	NC_000011.9:g.2797214C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000046006.4, RCV000057604.3, RCV000223851.1,