rs199473433

Orientation

minus

Stabilized

minus

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

Make rs199473433(C;T)

Make rs199473433(T;T)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150948456

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199473433
dbSNP (classic)	rs199473433
ClinGen	rs199473433
ebi	rs199473433
HLI	rs199473433
Exac	rs199473433
Gnomad	rs199473433
Varsome	rs199473433
LitVar	rs199473433
Map	rs199473433
PheGenI	rs199473433
Biobank	rs199473433
1000 genomes	rs199473433
hgdp	rs199473433
ensembl	rs199473433
geneview	rs199473433
scholar	rs199473433
google	rs199473433
pharmgkb	rs199473433
gwascentral	rs199473433
openSNP	rs199473433
23andMe	rs199473433
SNPshot	rs199473433
SNPdbe	rs199473433
MSV3d	rs199473433
GWAS Ctlg	rs199473433

Max Magnitude

0

ClinVar
Risk	rs199473433(T;T)
Alt	rs199473433(T;T)
Reference	Rs199473433(C;C)
Significance	Pathogenic
Disease	Congenital long QT syndrome not provided
Variation	info
Gene	KCNH2
CLNDBN	Congenital long QT syndrome not provided
Reversed	1
HGVS	NC_000007.13:g.150645544G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058149.2, RCV000181880.2,