rs199473428

Orientation

minus

Stabilized

minus

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

Make rs199473428(A;A)

Make rs199473428(A;G)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150951643

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199473428
dbSNP (classic)	rs199473428
ClinGen	rs199473428
ebi	rs199473428
HLI	rs199473428
Exac	rs199473428
Gnomad	rs199473428
Varsome	rs199473428
LitVar	rs199473428
Map	rs199473428
PheGenI	rs199473428
Biobank	rs199473428
1000 genomes	rs199473428
hgdp	rs199473428
ensembl	rs199473428
geneview	rs199473428
scholar	rs199473428
google	rs199473428
pharmgkb	rs199473428
gwascentral	rs199473428
openSNP	rs199473428
23andMe	rs199473428
SNPshot	rs199473428
SNPdbe	rs199473428
MSV3d	rs199473428
GWAS Ctlg	rs199473428

Max Magnitude

0

ClinVar
Risk	rs199473428(A;A) rs199473428(C;C) rs199473428(T;T)
Alt	rs199473428(A;A) rs199473428(C;C) rs199473428(T;T)
Reference	Rs199473428(G;G)
Significance	Pathogenic
Disease	Congenital long QT syndrome not provided Long QT syndrome 2 Long QT syndrome Short QT syndrome 1
Variation	info
Gene	KCNH2
CLNDBN	Congenital long QT syndrome not provided Long QT syndrome 2 Long QT syndrome Short QT syndrome 1
Reversed	1
HGVS	NC_000007.13:g.150648731C>A; NC_000007.13:g.150648731C>G; NC_000007.13:g.150648731C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000057976.3, RCV000181817.1, RCV000057975.3, RCV000057974.3, RCV000157264.1, RCV000181816.3, RCV000470290.1, RCV000477917.1,