rs397508117

Orientation

plus

Stabilized

plus

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

Make rs397508117(G;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2570717

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs397508117
dbSNP (classic)	rs397508117
ClinGen	rs397508117
ebi	rs397508117
HLI	rs397508117
Exac	rs397508117
Gnomad	rs397508117
Varsome	rs397508117
LitVar	rs397508117
Map	rs397508117
PheGenI	rs397508117
Biobank	rs397508117
1000 genomes	rs397508117
hgdp	rs397508117
ensembl	rs397508117
geneview	rs397508117
scholar	rs397508117
google	rs397508117
pharmgkb	rs397508117
gwascentral	rs397508117
openSNP	rs397508117
23andMe	rs397508117
SNPshot	rs397508117
SNPdbe	rs397508117
MSV3d	rs397508117
GWAS Ctlg	rs397508117

Max Magnitude

5

ClinVar
Risk	rs397508117(G;G)
Alt	rs397508117(G;G)
Reference	Rs397508117(-;-)
Significance	Pathogenic
Disease	Jervell and Lange-Nielsen syndrome 1 Long QT syndrome not provided
Variation	info
Gene	KCNQ1
CLNDBN	Jervell and Lange-Nielsen syndrome 1 Long QT syndrome not provided
Reversed	0
HGVS	NC_000011.9:g.2591947dupG
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003273.3, RCV000046086.4, RCV000182266.2,