rs397508097

Orientation

plus

Stabilized

plus

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

Make rs397508097(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2768917

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs397508097
dbSNP (classic)	rs397508097
ClinGen	rs397508097
ebi	rs397508097
HLI	rs397508097
Exac	rs397508097
Gnomad	rs397508097
Varsome	rs397508097
LitVar	rs397508097
Map	rs397508097
PheGenI	rs397508097
Biobank	rs397508097
1000 genomes	rs397508097
hgdp	rs397508097
ensembl	rs397508097
geneview	rs397508097
scholar	rs397508097
google	rs397508097
pharmgkb	rs397508097
gwascentral	rs397508097
openSNP	rs397508097
23andMe	rs397508097
SNPshot	rs397508097
SNPdbe	rs397508097
MSV3d	rs397508097
GWAS Ctlg	rs397508097

Max Magnitude

5

aka c.1991G>A (p.Gly664Asp) and in other literature c.1588C>T

Considered pathogenic for Long QT syndrome, but in at least one publication, also noted as of low penetrance [PMID 30609406]

ClinVar
Risk	rs397508097(T;T)
Alt	rs397508097(T;T)
Reference	Rs397508097(C;C)
Significance	Pathogenic
Disease	Long QT syndrome not provided
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome not provided
Reversed	0
HGVS	NC_000011.9:g.2790147C>T
CLNSRC	ClinVar
CLNACC	RCV000046003.4, RCV000182204.4,