rs121912513

minus

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

Make rs121912513(A;T)

Make rs121912513(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

150948866

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs121912513
dbSNP (classic)	rs121912513
ClinGen	rs121912513
ebi	rs121912513
HLI	rs121912513
Exac	rs121912513
Gnomad	rs121912513
Varsome	rs121912513
LitVar	rs121912513
Map	rs121912513
PheGenI	rs121912513
Biobank	rs121912513
1000 genomes	rs121912513
hgdp	rs121912513
ensembl	rs121912513
geneview	rs121912513
scholar	rs121912513
google	rs121912513
pharmgkb	rs121912513
gwascentral	rs121912513
openSNP	rs121912513
23andMe	rs121912513
SNPshot	rs121912513
SNPdbe	rs121912513
MSV3d	rs121912513
GWAS Ctlg	rs121912513

Max Magnitude

0

OMIM	152427
Desc
Variant	0021
Related	also

ClinVar
Risk	rs121912513(C;C) rs121912513(G;G) rs121912513(T;T)
Alt	rs121912513(C;C) rs121912513(G;G) rs121912513(T;T)
Reference	Rs121912513(A;A)
Significance	Pathogenic
Disease	Long QT syndrome 2 Long QT syndrome 2/5 Congenital long QT syndrome not provided
Variation	info
Gene	KCNH2
CLNDBN	Long QT syndrome 2 Long QT syndrome 2/5 Congenital long QT syndrome not provided
Reversed	1
HGVS	NC_000007.13:g.150645954T>A; NC_000007.13:g.150645954T>C; NC_000007.13:g.150645954T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015522.27, RCV000015523.27, RCV000058141.3, RCV000181876.1, RCV000058140.3,

[PMID 15051636] Compound mutations: a common cause of severe long-QT syndrome.

[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

[PMID 11854117] Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel.