rs397508128

Merged into

rs397508127

Orientation

plus

Stabilized

plus

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

Make rs397508128(-;-)

Make rs397508128(-;CTC)

Reference

GRCh38.p2 38.2/146

Chromosome

11

Position

2572893

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs397508128
dbSNP (classic)	rs397508128
ClinGen	rs397508128
ebi	rs397508128
HLI	rs397508128
Exac	rs397508128
Gnomad	rs397508128
Varsome	rs397508128
LitVar	rs397508128
Map	rs397508128
PheGenI	rs397508128
Biobank	rs397508128
1000 genomes	rs397508128
hgdp	rs397508128
ensembl	rs397508128
geneview	rs397508128
scholar	rs397508128
google	rs397508128
pharmgkb	rs397508128
gwascentral	rs397508128
openSNP	rs397508128
23andMe	rs397508128
SNPshot	rs397508128
SNPdbe	rs397508128
MSV3d	rs397508128
GWAS Ctlg	rs397508128

Status

Merged into rs397508127

Max Magnitude

0

ClinVar
Risk
Alt
Reference	Rs397508128(CTC;CTC)
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,