rs189014161

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;G)	5	Romano-Ward Long QT Syndrome
(C;G)	6	Long QT syndrome; other possible cardiac issues
(G;G)	0	common in clinvar

Make rs189014161(C;C)

Reference

GRCh38.p2 38.2/144

Chromosome

7

Position

150950336

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs189014161
dbSNP (classic)	rs189014161
ClinGen	rs189014161
ebi	rs189014161
HLI	rs189014161
Exac	rs189014161
Gnomad	rs189014161
Varsome	rs189014161
LitVar	rs189014161
Map	rs189014161
PheGenI	rs189014161
Biobank	rs189014161
1000 genomes	rs189014161
hgdp	rs189014161
ensembl	rs189014161
geneview	rs189014161
scholar	rs189014161
google	rs189014161
pharmgkb	rs189014161
gwascentral	rs189014161
openSNP	rs189014161
23andMe	rs189014161
SNPshot	rs189014161
SNPdbe	rs189014161
MSV3d	rs189014161
GWAS Ctlg	rs189014161

Max Magnitude

6

aka c.2230C>T (p.Arg744Ter)

Reported in ClinVar as pathogenic for Long QT syndrome; also observed in a sudden cardiac death patient [PMID 31727422]

ClinVar
Risk	rs189014161(A;A) rs189014161(C;C) rs189014161(T;T)
Alt	rs189014161(A;A) rs189014161(C;C) rs189014161(T;T)
Reference	Rs189014161(G;G)
Significance	Pathogenic
Disease	Long QT syndrome 2 not provided Long QT syndrome
Variation	info
Gene	KCNH2
CLNDBN	Long QT syndrome 2 not provided Long QT syndrome
Reversed	0
HGVS	NC_000007.13:g.150647424G>A
CLNSRC
CLNACC	RCV000157266.1, RCV000181843.2, RCV000473013.1,