rs199472752

Orientation

plus

Stabilized

plus

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

Make rs199472752(C;C)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2583467

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472752
dbSNP (classic)	rs199472752
ClinGen	rs199472752
ebi	rs199472752
HLI	rs199472752
Exac	rs199472752
Gnomad	rs199472752
Varsome	rs199472752
LitVar	rs199472752
Map	rs199472752
PheGenI	rs199472752
Biobank	rs199472752
1000 genomes	rs199472752
hgdp	rs199472752
ensembl	rs199472752
geneview	rs199472752
scholar	rs199472752
google	rs199472752
pharmgkb	rs199472752
gwascentral	rs199472752
openSNP	rs199472752
23andMe	rs199472752
SNPshot	rs199472752
SNPdbe	rs199472752
MSV3d	rs199472752
GWAS Ctlg	rs199472752

Max Magnitude

5

ClinVar
Risk	rs199472752(C;C)
Alt	rs199472752(C;C)
Reference	Rs199472752(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.2604697G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000046178.2, RCV000057825.3, RCV000182142.1,