rs12720441

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in complete genomics
(C;T)	5	Romano-Ward Long QT Syndrome

Make rs12720441(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

150950216

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs12720441
dbSNP (classic)	rs12720441
ClinGen	rs12720441
ebi	rs12720441
HLI	rs12720441
Exac	rs12720441
Gnomad	rs12720441
Varsome	rs12720441
LitVar	rs12720441
Map	rs12720441
PheGenI	rs12720441
Biobank	rs12720441
1000 genomes	rs12720441
hgdp	rs12720441
ensembl	rs12720441
geneview	rs12720441
scholar	rs12720441
google	rs12720441
pharmgkb	rs12720441
gwascentral	rs12720441
openSNP	rs12720441
23andMe	rs12720441
SNPshot	rs12720441
SNPdbe	rs12720441
MSV3d	rs12720441
GWAS Ctlg	rs12720441

Status

Deleted

GMAF

0.0004591

Max Magnitude

5

?	(C;C) (C;T) (T;T)	28

OMIM	152427
Desc	LONG QT SYNDROME 2, ACQUIRED, SUSCEPTIBILITY TO
Variant	0014
Related	also

ClinVar
Risk	rs12720441(G;G) rs12720441(T;T)
Alt	rs12720441(G;G) rs12720441(T;T)
Reference	Rs12720441(C;C)
Significance	Other
Disease	Long QT syndrome 2 Congenital long QT syndrome Brugada syndrome
Variation	info
Gene	KCNH2
CLNDBN	Long QT syndrome 2, acquired, susceptibility to Congenital long QT syndrome Brugada syndrome
Reversed	1
HGVS	NC_000007.13:g.150647304G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015514.3, RCV000058108.3, RCV000208497.1,

[PMID 19214780] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).

[PMID 14760488] Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.

[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

[PMID 19841300] Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.