rs199473432

Orientation

minus

Stabilized

minus

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

Make rs199473432(A;A)

Make rs199473432(A;G)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150948476

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199473432
dbSNP (classic)	rs199473432
ClinGen	rs199473432
ebi	rs199473432
HLI	rs199473432
Exac	rs199473432
Gnomad	rs199473432
Varsome	rs199473432
LitVar	rs199473432
Map	rs199473432
PheGenI	rs199473432
Biobank	rs199473432
1000 genomes	rs199473432
hgdp	rs199473432
ensembl	rs199473432
geneview	rs199473432
scholar	rs199473432
google	rs199473432
pharmgkb	rs199473432
gwascentral	rs199473432
openSNP	rs199473432
23andMe	rs199473432
SNPshot	rs199473432
SNPdbe	rs199473432
MSV3d	rs199473432
GWAS Ctlg	rs199473432

Max Magnitude

0

ClinVar
Risk	rs199473432(A;A)
Alt	rs199473432(A;A)
Reference	Rs199473432(G;G)
Significance	Probable-Pathogenic
Disease	Congenital long QT syndrome Long QT syndrome Long QT syndrome 2 not provided
Variation	info
Gene	KCNH2
CLNDBN	Congenital long QT syndrome Long QT syndrome Long QT syndrome 2 not provided
Reversed	1
HGVS	NC_000007.13:g.150645564C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058148.3, RCV000148534.1, RCV000210414.1, RCV000438782.1,