rs387906290

Orientation

plus

Stabilized

plus

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

Make rs387906290(C;C)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2583434

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs387906290
dbSNP (classic)	rs387906290
ClinGen	rs387906290
ebi	rs387906290
HLI	rs387906290
Exac	rs387906290
Gnomad	rs387906290
Varsome	rs387906290
LitVar	rs387906290
Map	rs387906290
PheGenI	rs387906290
Biobank	rs387906290
1000 genomes	rs387906290
hgdp	rs387906290
ensembl	rs387906290
geneview	rs387906290
scholar	rs387906290
google	rs387906290
pharmgkb	rs387906290
gwascentral	rs387906290
openSNP	rs387906290
23andMe	rs387906290
SNPshot	rs387906290
SNPdbe	rs387906290
MSV3d	rs387906290
GWAS Ctlg	rs387906290

Max Magnitude

5

ClinVar
Risk	rs387906290(A;A) rs387906290(C;C)
Alt	rs387906290(A;A) rs387906290(C;C)
Reference	Rs387906290(G;G)
Significance	Pathogenic
Disease	not provided Long QT syndrome 1 Long QT syndrome
Variation	info
Gene	KCNQ1
CLNDBN	not provided Long QT syndrome 1 Long QT syndrome, LQT1 subtype
Reversed	0
HGVS	NC_000011.9:g.2604664G>A; NC_000011.9:g.2604664G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000412764.1, RCV000003282.2, RCV000046158.2,