rs199472995

Orientation

minus

Stabilized

minus

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

Make rs199472995(G;T)

Make rs199472995(T;T)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150950246

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199472995
dbSNP (classic)	rs199472995
ClinGen	rs199472995
ebi	rs199472995
HLI	rs199472995
Exac	rs199472995
Gnomad	rs199472995
Varsome	rs199472995
LitVar	rs199472995
Map	rs199472995
PheGenI	rs199472995
Biobank	rs199472995
1000 genomes	rs199472995
hgdp	rs199472995
ensembl	rs199472995
geneview	rs199472995
scholar	rs199472995
google	rs199472995
pharmgkb	rs199472995
gwascentral	rs199472995
openSNP	rs199472995
23andMe	rs199472995
SNPshot	rs199472995
SNPdbe	rs199472995
MSV3d	rs199472995
GWAS Ctlg	rs199472995

Max Magnitude

0

ClinVar
Risk	rs199472995(T;T)
Alt	rs199472995(T;T)
Reference	Rs199472995(G;G)
Significance	Pathogenic
Disease	Congenital long QT syndrome not provided Long QT syndrome 2
Variation	info
Gene	KCNH2
CLNDBN	Congenital long QT syndrome not provided Long QT syndrome 2
Reversed	1
HGVS	NC_000007.13:g.150647334C>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058106.3, RCV000182045.2, RCV000208316.1,