rs121912514

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs121912514(C;T)

Make rs121912514(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

150947729

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs121912514
dbSNP (classic)	rs121912514
ClinGen	rs121912514
ebi	rs121912514
HLI	rs121912514
Exac	rs121912514
Gnomad	rs121912514
Varsome	rs121912514
LitVar	rs121912514
Map	rs121912514
PheGenI	rs121912514
Biobank	rs121912514
1000 genomes	rs121912514
hgdp	rs121912514
ensembl	rs121912514
geneview	rs121912514
scholar	rs121912514
google	rs121912514
pharmgkb	rs121912514
gwascentral	rs121912514
openSNP	rs121912514
23andMe	rs121912514
SNPshot	rs121912514
SNPdbe	rs121912514
MSV3d	rs121912514
GWAS Ctlg	rs121912514

Max Magnitude

0

OMIM	152427
Desc
Variant	0022
Related	also

ClinVar
Risk	rs121912514(A;A) rs121912514(T;T)
Alt	rs121912514(A;A) rs121912514(T;T)
Reference	Rs121912514(C;C)
Significance	Pathogenic
Disease	Long QT syndrome 1/2 Congenital long QT syndrome
Variation	info
Gene	KCNH2
CLNDBN	Long QT syndrome 1/2, digenic Congenital long QT syndrome
Reversed	1
HGVS	NC_000007.13:g.150644817G>A; NC_000007.13:g.150644817G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015524.26, RCV000058169.3, RCV000058168.3,

[PMID 20541041] Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study.

[PMID 16922724] Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.