rs199472763

Orientation

plus

Stabilized

plus

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

Make rs199472763(A;A)

Make rs199472763(A;C)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2583544

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472763
dbSNP (classic)	rs199472763
ClinGen	rs199472763
ebi	rs199472763
HLI	rs199472763
Exac	rs199472763
Gnomad	rs199472763
Varsome	rs199472763
LitVar	rs199472763
Map	rs199472763
PheGenI	rs199472763
Biobank	rs199472763
1000 genomes	rs199472763
hgdp	rs199472763
ensembl	rs199472763
geneview	rs199472763
scholar	rs199472763
google	rs199472763
pharmgkb	rs199472763
gwascentral	rs199472763
openSNP	rs199472763
23andMe	rs199472763
SNPshot	rs199472763
SNPdbe	rs199472763
MSV3d	rs199472763
GWAS Ctlg	rs199472763

Max Magnitude

0

ClinVar
Risk	rs199472763(A;A) rs199472763(G;G) rs199472763(T;T)
Alt	rs199472763(A;A) rs199472763(G;G) rs199472763(T;T)
Reference	Rs199472763(C;C)
Significance	Pathogenic
Disease	Congenital long QT syndrome not specified not provided Long QT syndrome
Variation	info
Gene	KCNQ1
CLNDBN	Congenital long QT syndrome not specified not provided Long QT syndrome, LQT1 subtype
Reversed	0
HGVS	NC_000011.9:g.2604774C>A; NC_000011.9:g.2604774C>G; NC_000011.9:g.2604774C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000057533.3, RCV000223742.1, RCV000182313.2, RCV000045938.2, RCV000057534.3, RCV000223824.1,