rs199472755

Orientation

plus

Stabilized

plus

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

Make rs199472755(A;A)

Make rs199472755(A;C)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2583478

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472755
dbSNP (classic)	rs199472755
ClinGen	rs199472755
ebi	rs199472755
HLI	rs199472755
Exac	rs199472755
Gnomad	rs199472755
Varsome	rs199472755
LitVar	rs199472755
Map	rs199472755
PheGenI	rs199472755
Biobank	rs199472755
1000 genomes	rs199472755
hgdp	rs199472755
ensembl	rs199472755
geneview	rs199472755
scholar	rs199472755
google	rs199472755
pharmgkb	rs199472755
gwascentral	rs199472755
openSNP	rs199472755
23andMe	rs199472755
SNPshot	rs199472755
SNPdbe	rs199472755
MSV3d	rs199472755
GWAS Ctlg	rs199472755

Max Magnitude

0

ClinVar
Risk	rs199472755(A;A) rs199472755(G;G) rs199472755(T;T)
Alt	rs199472755(A;A) rs199472755(G;G) rs199472755(T;T)
Reference	Rs199472755(C;C)
Significance	Other
Disease	Long QT syndrome Congenital long QT syndrome not provided Long QT syndrome Cardiovascular phenotype
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided Long QT syndrome Cardiovascular phenotype
Reversed	0
HGVS	NC_000011.9:g.2604708C>A; NC_000011.9:g.2604708C>G; NC_000011.9:g.2604708C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000046182.2, RCV000057830.3, RCV000182148.2, RCV000057831.3, RCV000182149.1, RCV000190213.2, RCV000247480.1,