rs199472699

Orientation

plus

Stabilized

plus

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

Make rs199472699(C;C)

Make rs199472699(C;G)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2570730

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472699
dbSNP (classic)	rs199472699
ClinGen	rs199472699
ebi	rs199472699
HLI	rs199472699
Exac	rs199472699
Gnomad	rs199472699
Varsome	rs199472699
LitVar	rs199472699
Map	rs199472699
PheGenI	rs199472699
Biobank	rs199472699
1000 genomes	rs199472699
hgdp	rs199472699
ensembl	rs199472699
geneview	rs199472699
scholar	rs199472699
google	rs199472699
pharmgkb	rs199472699
gwascentral	rs199472699
openSNP	rs199472699
23andMe	rs199472699
SNPshot	rs199472699
SNPdbe	rs199472699
MSV3d	rs199472699
GWAS Ctlg	rs199472699

Max Magnitude

0

ClinVar
Risk	rs199472699(C;C)
Alt	rs199472699(C;C)
Reference	Rs199472699(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.2591960G>C
CLNSRC	UniProtKB (protein)
CLNACC	RCV000046094.2, RCV000057712.3, RCV000223826.1,