rs794728513

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	5	Romano-Ward Long QT Syndrome

Make rs794728513(C;T)

Make rs794728513(T;T)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

2572087

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs794728513
dbSNP (classic)	rs794728513
ClinGen	rs794728513
ebi	rs794728513
HLI	rs794728513
Exac	rs794728513
Gnomad	rs794728513
Varsome	rs794728513
LitVar	rs794728513
Map	rs794728513
PheGenI	rs794728513
Biobank	rs794728513
1000 genomes	rs794728513
hgdp	rs794728513
ensembl	rs794728513
geneview	rs794728513
scholar	rs794728513
google	rs794728513
pharmgkb	rs794728513
gwascentral	rs794728513
openSNP	rs794728513
23andMe	rs794728513
SNPshot	rs794728513
SNPdbe	rs794728513
MSV3d	rs794728513
GWAS Ctlg	rs794728513

Max Magnitude

5

ClinVar
Risk	rs794728513(G;G) rs794728513(T;T)
Alt	rs794728513(G;G) rs794728513(T;T)
Reference	Rs794728513(C;C)
Significance	Pathogenic
Disease	Long QT syndrome 1 not provided
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome 1 not provided
Reversed	0
HGVS	NC_000011.9:g.2593317C>G; NC_000011.9:g.2593317C>T
CLNSRC
CLNACC	RCV000234788.1, RCV000182108.2,