rs199472697

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs199472697(C;C)

Make rs199472697(C;G)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2570671

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472697
dbSNP (classic)	rs199472697
ClinGen	rs199472697
ebi	rs199472697
HLI	rs199472697
Exac	rs199472697
Gnomad	rs199472697
Varsome	rs199472697
LitVar	rs199472697
Map	rs199472697
PheGenI	rs199472697
Biobank	rs199472697
1000 genomes	rs199472697
hgdp	rs199472697
ensembl	rs199472697
geneview	rs199472697
scholar	rs199472697
google	rs199472697
pharmgkb	rs199472697
gwascentral	rs199472697
openSNP	rs199472697
23andMe	rs199472697
SNPshot	rs199472697
SNPdbe	rs199472697
MSV3d	rs199472697
GWAS Ctlg	rs199472697

Max Magnitude

0

ClinVar
Risk	rs199472697(A;A) rs199472697(C;C) rs199472697(T;T)
Alt	rs199472697(A;A) rs199472697(C;C) rs199472697(T;T)
Reference	Rs199472697(G;G)
Significance	Probable-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.2591901G>A; NC_000011.9:g.2591901G>C; NC_000011.9:g.2591901G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000046073.2, RCV000057690.3, RCV000223741.1, RCV000046074.2, RCV000057691.3, RCV000182080.2,