rs199472685

Orientation

plus

Stabilized

plus

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

Make rs199472685(C;C)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2527942

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472685
dbSNP (classic)	rs199472685
ClinGen	rs199472685
ebi	rs199472685
HLI	rs199472685
Exac	rs199472685
Gnomad	rs199472685
Varsome	rs199472685
LitVar	rs199472685
Map	rs199472685
PheGenI	rs199472685
Biobank	rs199472685
1000 genomes	rs199472685
hgdp	rs199472685
ensembl	rs199472685
geneview	rs199472685
scholar	rs199472685
google	rs199472685
pharmgkb	rs199472685
gwascentral	rs199472685
openSNP	rs199472685
23andMe	rs199472685
SNPshot	rs199472685
SNPdbe	rs199472685
MSV3d	rs199472685
GWAS Ctlg	rs199472685

Max Magnitude

5

ClinVar
Risk	rs199472685(C;C)
Alt	rs199472685(C;C)
Reference	Rs199472685(T;T)
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.2549172T>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000057669.3, RCV000182326.1,