rs199472989

Orientation

minus

Stabilized

minus

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

Make rs199472989(G;T)

Make rs199472989(T;T)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150950320

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199472989
dbSNP (classic)	rs199472989
ClinGen	rs199472989
ebi	rs199472989
HLI	rs199472989
Exac	rs199472989
Gnomad	rs199472989
Varsome	rs199472989
LitVar	rs199472989
Map	rs199472989
PheGenI	rs199472989
Biobank	rs199472989
1000 genomes	rs199472989
hgdp	rs199472989
ensembl	rs199472989
geneview	rs199472989
scholar	rs199472989
google	rs199472989
pharmgkb	rs199472989
gwascentral	rs199472989
openSNP	rs199472989
23andMe	rs199472989
SNPshot	rs199472989
SNPdbe	rs199472989
MSV3d	rs199472989
GWAS Ctlg	rs199472989

Max Magnitude

0

ClinVar
Risk	rs199472989(T;T)
Alt	rs199472989(T;T)
Reference	Rs199472989(G;G)
Significance	Pathogenic
Disease	Congenital long QT syndrome not provided not specified
Variation	info
Gene	KCNH2
CLNDBN	Congenital long QT syndrome not provided not specified
Reversed	1
HGVS	NC_000007.13:g.150647408C>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058098.3, RCV000181844.1, RCV000454509.1,