rs199472893

Orientation

minus

Stabilized

minus

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

Make rs199472893(C;C)

Make rs199472893(C;T)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150952744

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199472893
dbSNP (classic)	rs199472893
ClinGen	rs199472893
ebi	rs199472893
HLI	rs199472893
Exac	rs199472893
Gnomad	rs199472893
Varsome	rs199472893
LitVar	rs199472893
Map	rs199472893
PheGenI	rs199472893
Biobank	rs199472893
1000 genomes	rs199472893
hgdp	rs199472893
ensembl	rs199472893
geneview	rs199472893
scholar	rs199472893
google	rs199472893
pharmgkb	rs199472893
gwascentral	rs199472893
openSNP	rs199472893
23andMe	rs199472893
SNPshot	rs199472893
SNPdbe	rs199472893
MSV3d	rs199472893
GWAS Ctlg	rs199472893

Max Magnitude

0

ClinVar
Risk	rs199472893(C;C) rs199472893(G;G)
Alt	rs199472893(C;C) rs199472893(G;G)
Reference	Rs199472893(T;T)
Significance	Probable-Pathogenic
Disease	Long QT syndrome 2 Congenital long QT syndrome
Variation	info
Gene	KCNH2
CLNDBN	Long QT syndrome 2 Congenital long QT syndrome
Reversed	1
HGVS	NC_000007.13:g.150649832A>C; NC_000007.13:g.150649832A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000258955.1, RCV000057877.3,