rs199472702

Orientation

plus

Stabilized

plus

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

Make rs199472702(C;C)

Make rs199472702(C;G)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2570754

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472702
dbSNP (classic)	rs199472702
ClinGen	rs199472702
ebi	rs199472702
HLI	rs199472702
Exac	rs199472702
Gnomad	rs199472702
Varsome	rs199472702
LitVar	rs199472702
Map	rs199472702
PheGenI	rs199472702
Biobank	rs199472702
1000 genomes	rs199472702
hgdp	rs199472702
ensembl	rs199472702
geneview	rs199472702
scholar	rs199472702
google	rs199472702
pharmgkb	rs199472702
gwascentral	rs199472702
openSNP	rs199472702
23andMe	rs199472702
SNPshot	rs199472702
SNPdbe	rs199472702
MSV3d	rs199472702
GWAS Ctlg	rs199472702

Max Magnitude

5

ClinVar
Risk	rs199472702(A;A) rs199472702(C;C)
Alt	rs199472702(A;A) rs199472702(C;C)
Reference	Rs199472702(G;G)
Significance	Pathogenic
Disease	Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome not provided
Variation	info
Gene	KCNQ1
CLNDBN	Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome not provided
Reversed	0
HGVS	NC_000011.9:g.2591984G>A; NC_000011.9:g.2591984G>C
CLNSRC	ClinVar
CLNACC	RCV000046096.2, RCV000057718.3, RCV000182091.2, RCV000057719.3,