rs12720458

Orientation

plus

Stabilized

plus

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

Make rs12720458(A;G)

Make rs12720458(G;G)

Reference

GRCh38 38.1/142

Chromosome

11

Position

2585264

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs12720458
dbSNP (classic)	rs12720458
ClinGen	rs12720458
ebi	rs12720458
HLI	rs12720458
Exac	rs12720458
Gnomad	rs12720458
Varsome	rs12720458
LitVar	rs12720458
Map	rs12720458
PheGenI	rs12720458
Biobank	rs12720458
1000 genomes	rs12720458
hgdp	rs12720458
ensembl	rs12720458
geneview	rs12720458
scholar	rs12720458
google	rs12720458
pharmgkb	rs12720458
gwascentral	rs12720458
openSNP	rs12720458
23andMe	rs12720458
SNPshot	rs12720458
SNPdbe	rs12720458
MSV3d	rs12720458
GWAS Ctlg	rs12720458

Max Magnitude

0

?	(A;A) (A;G) (G;G)	28

ClinVar
Risk	rs12720458(G;G)
Alt	rs12720458(G;G)
Reference	Rs12720458(A;A)
Significance	Probable-Pathogenic
Disease	Long QT syndrome Congenital long QT syndrome not provided
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome Congenital long QT syndrome not provided
Reversed	0
HGVS	NC_000011.9:g.2606494A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000045957.3, RCV000057548.3, RCV000223836.3,