rs199473421

Orientation

minus

Stabilized

minus

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

Make rs199473421(T;T)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150974803

Gene	KCNH2, LOC107986861

is a	snp
is	mentioned by
dbSNP	rs199473421
dbSNP (classic)	rs199473421
ClinGen	rs199473421
ebi	rs199473421
HLI	rs199473421
Exac	rs199473421
Gnomad	rs199473421
Varsome	rs199473421
LitVar	rs199473421
Map	rs199473421
PheGenI	rs199473421
Biobank	rs199473421
1000 genomes	rs199473421
hgdp	rs199473421
ensembl	rs199473421
geneview	rs199473421
scholar	rs199473421
google	rs199473421
pharmgkb	rs199473421
gwascentral	rs199473421
openSNP	rs199473421
23andMe	rs199473421
SNPshot	rs199473421
SNPdbe	rs199473421
MSV3d	rs199473421
GWAS Ctlg	rs199473421

Max Magnitude

5

ClinVar
Risk	rs199473421(A;A) rs199473421(G;G) rs199473421(T;T)
Alt	rs199473421(A;A) rs199473421(G;G) rs199473421(T;T)
Reference	Rs199473421(C;C)
Significance	Pathogenic
Disease	Congenital long QT syndrome not provided Long QT syndrome
Variation	info
Gene	KCNH2
CLNDBN	Congenital long QT syndrome not provided Long QT syndrome
Reversed	1
HGVS	NC_000007.13:g.150671891G>A; NC_000007.13:g.150671891G>C; NC_000007.13:g.150671891G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058090.3, RCV000181938.2, RCV000058089.3, RCV000464288.1, RCV000058088.3, RCV000463612.1,