rs1800171

Orientation

plus

Stabilized

plus

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

Make rs1800171(C;C)

Make rs1800171(C;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2583545

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs1800171
dbSNP (classic)	rs1800171
ClinGen	rs1800171
ebi	rs1800171
HLI	rs1800171
Exac	rs1800171
Gnomad	rs1800171
Varsome	rs1800171
LitVar	rs1800171
Map	rs1800171
PheGenI	rs1800171
Biobank	rs1800171
1000 genomes	rs1800171
hgdp	rs1800171
ensembl	rs1800171
geneview	rs1800171
scholar	rs1800171
google	rs1800171
pharmgkb	rs1800171
gwascentral	rs1800171
openSNP	rs1800171
23andMe	rs1800171
SNPshot	rs1800171
SNPdbe	rs1800171
MSV3d	rs1800171
GWAS Ctlg	rs1800171

Max Magnitude

5

ClinVar
Risk	rs1800171(A;A) rs1800171(C;C)
Alt	rs1800171(A;A) rs1800171(C;C)
Reference	Rs1800171(G;G)
Significance	Pathogenic
Disease	Long QT syndrome 1 Long QT syndrome not provided Long QT syndrome
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome 1 Long QT syndrome not provided Long QT syndrome, LQT1 subtype
Reversed	0
HGVS	NC_000011.9:g.2604775G>A; NC_000011.9:g.2604775G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000003283.4, RCV000045941.4, RCV000182159.3, RCV000045942.2, RCV000182160.1,