rs199473485

Orientation

plus

Stabilized

plus

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

Make rs199473485(C;C)

Make rs199473485(C;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2445100

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199473485
dbSNP (classic)	rs199473485
ClinGen	rs199473485
ebi	rs199473485
HLI	rs199473485
Exac	rs199473485
Gnomad	rs199473485
Varsome	rs199473485
LitVar	rs199473485
Map	rs199473485
PheGenI	rs199473485
Biobank	rs199473485
1000 genomes	rs199473485
hgdp	rs199473485
ensembl	rs199473485
geneview	rs199473485
scholar	rs199473485
google	rs199473485
pharmgkb	rs199473485
gwascentral	rs199473485
openSNP	rs199473485
23andMe	rs199473485
SNPshot	rs199473485
SNPdbe	rs199473485
MSV3d	rs199473485
GWAS Ctlg	rs199473485

Max Magnitude

0

ClinVar
Risk	rs199473485(C;C)
Alt	rs199473485(C;C)
Reference	Rs199473485(T;T)
Significance	Untested
Disease	Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome
Variation	info
Gene	KCNQ1
CLNDBN	Jervell and Lange-Nielsen syndrome 1 Congenital long QT syndrome
Reversed	0
HGVS	NC_000011.9:g.2466330T>C
CLNSRC	ClinVar
CLNACC	RCV000046046.2, RCV000057656.3,

[PMID 21380488] Novel compound heterozygous mutations T2C and 1149insT in the KCNQ1 gene cause Jervell and Lange-Nielsen syndrome.