rs397508118

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;GCGCT)	5	Romano-Ward Long QT Syndrome
(GCGCT;GCGCT)	0	common in clinvar
(GCTGC;GCTGC)	0	common in clinvar
(I;I)	0	common genotype

Make rs397508118(-;-)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2570723

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs397508118
dbSNP (classic)	rs397508118
ClinGen	rs397508118
ebi	rs397508118
HLI	rs397508118
Exac	rs397508118
Gnomad	rs397508118
Varsome	rs397508118
LitVar	rs397508118
Map	rs397508118
PheGenI	rs397508118
Biobank	rs397508118
1000 genomes	rs397508118
hgdp	rs397508118
ensembl	rs397508118
geneview	rs397508118
scholar	rs397508118
google	rs397508118
pharmgkb	rs397508118
gwascentral	rs397508118
openSNP	rs397508118
23andMe	rs397508118
SNPshot	rs397508118
SNPdbe	rs397508118
MSV3d	rs397508118
GWAS Ctlg	rs397508118

Merged from

Rs606231414

Max Magnitude

5

ClinVar
Risk	rs397508118(-;-) Rs397508118(GCTGC;GCTGC) rs397508118(TGCGC;TGCGC)
Alt	rs397508118(-;-) Rs397508118(GCTGC;GCTGC) rs397508118(TGCGC;TGCGC)
Reference	Rs397508118(GCGCT;GCGCT)
Significance	Pathogenic
Disease	Long QT syndrome Jervell and Lange-Nielsen syndrome 1 not provided Long QT syndrome
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome, LQT1 subtype Jervell and Lange-Nielsen syndrome 1 not provided Long QT syndrome
Reversed	0
HGVS	NC_000011.9:g.2591953_2591957delGCGCT
CLNSRC	ClinVar
CLNACC	RCV000046091.3, RCV000144973.1, RCV000182268.3, RCV000233139.2,