rs121912512

Orientation

minus

Stabilized

minus

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

Make rs121912512(A;A)

Reference

GRCh38 38.1/141

Chromosome

7

Position

150950311

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs121912512
dbSNP (classic)	rs121912512
ClinGen	rs121912512
ebi	rs121912512
HLI	rs121912512
Exac	rs121912512
Gnomad	rs121912512
Varsome	rs121912512
LitVar	rs121912512
Map	rs121912512
PheGenI	rs121912512
Biobank	rs121912512
1000 genomes	rs121912512
hgdp	rs121912512
ensembl	rs121912512
geneview	rs121912512
scholar	rs121912512
google	rs121912512
pharmgkb	rs121912512
gwascentral	rs121912512
openSNP	rs121912512
23andMe	rs121912512
SNPshot	rs121912512
SNPdbe	rs121912512
MSV3d	rs121912512
GWAS Ctlg	rs121912512

Max Magnitude

5

OMIM	152427
Desc
Variant	0016
Related	also

ClinVar
Risk	rs121912512(A;A)
Alt	rs121912512(A;A)
Reference	Rs121912512(G;G)
Significance	Other
Disease	Long QT syndrome 2 Congenital long QT syndrome Long QT syndrome
Variation	info
Gene	KCNH2
CLNDBN	Long QT syndrome 2 Congenital long QT syndrome Long QT syndrome
Reversed	1
HGVS	NC_000007.13:g.150647399C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015516.27, RCV000058100.3, RCV000148536.2,

[PMID 12621127] Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome.