rs199472676

Orientation

plus

Stabilized

plus

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

Make rs199472676(A;A)

Make rs199472676(A;C)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2445315

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472676
dbSNP (classic)	rs199472676
ClinGen	rs199472676
ebi	rs199472676
HLI	rs199472676
Exac	rs199472676
Gnomad	rs199472676
Varsome	rs199472676
LitVar	rs199472676
Map	rs199472676
PheGenI	rs199472676
Biobank	rs199472676
1000 genomes	rs199472676
hgdp	rs199472676
ensembl	rs199472676
geneview	rs199472676
scholar	rs199472676
google	rs199472676
pharmgkb	rs199472676
gwascentral	rs199472676
openSNP	rs199472676
23andMe	rs199472676
SNPshot	rs199472676
SNPdbe	rs199472676
MSV3d	rs199472676
GWAS Ctlg	rs199472676

Max Magnitude

0

ClinVar
Risk	rs199472676(A;A)
Alt	rs199472676(A;A)
Reference	Rs199472676(C;C)
Significance	Untested
Disease	Long QT syndrome Congenital long QT syndrome Long QT syndrome 1 Short QT syndrome 2
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome, LQT1 subtype Congenital long QT syndrome Long QT syndrome 1 Short QT syndrome 2
Reversed	0
HGVS	NC_000011.9:g.2466545C>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000046044.2, RCV000057655.3, RCV000415657.1, RCV000415717.1,