rs397508127

Orientation

plus

Stabilized

plus

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

Make rs397508127(-;-)

Make rs397508127(-;TCC)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

2572891

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs397508127
dbSNP (classic)	rs397508127
ClinGen	rs397508127
ebi	rs397508127
HLI	rs397508127
Exac	rs397508127
Gnomad	rs397508127
Varsome	rs397508127
LitVar	rs397508127
Map	rs397508127
PheGenI	rs397508127
Biobank	rs397508127
1000 genomes	rs397508127
hgdp	rs397508127
ensembl	rs397508127
geneview	rs397508127
scholar	rs397508127
google	rs397508127
pharmgkb	rs397508127
gwascentral	rs397508127
openSNP	rs397508127
23andMe	rs397508127
SNPshot	rs397508127
SNPdbe	rs397508127
MSV3d	rs397508127
GWAS Ctlg	rs397508127

Merged from

Rs397508128

Max Magnitude

5

ClinVar
Risk	rs397508127(-;-) Rs397508127(CTC;CTC)
Alt	rs397508127(-;-) Rs397508127(CTC;CTC)
Reference	Rs397508127(TCC;TCC)
Significance	Pathogenic
Disease	Long QT syndrome Jervell and Lange-Nielsen syndrome 1 not provided Long QT syndrome 1
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome, LQT1 subtype Jervell and Lange-Nielsen syndrome 1 not provided Long QT syndrome 1
Reversed	0
HGVS	NC_000011.9:g.2594123_2594125delCTC
CLNSRC
CLNACC	RCV000046139.2, RCV000046140.2, RCV000182333.2, RCV000239635.1,