rs199472986

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	5	Romano-Ward Long QT Syndrome

Make rs199472986(T;T)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150950404

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199472986
dbSNP (classic)	rs199472986
ClinGen	rs199472986
ebi	rs199472986
HLI	rs199472986
Exac	rs199472986
Gnomad	rs199472986
Varsome	rs199472986
LitVar	rs199472986
Map	rs199472986
PheGenI	rs199472986
Biobank	rs199472986
1000 genomes	rs199472986
hgdp	rs199472986
ensembl	rs199472986
geneview	rs199472986
scholar	rs199472986
google	rs199472986
pharmgkb	rs199472986
gwascentral	rs199472986
openSNP	rs199472986
23andMe	rs199472986
SNPshot	rs199472986
SNPdbe	rs199472986
MSV3d	rs199472986
GWAS Ctlg	rs199472986

Max Magnitude

5

ClinVar
Risk	rs199472986(T;T)
Alt	rs199472986(T;T)
Reference	Rs199472986(C;C)
Significance	Probable-Pathogenic
Disease	Congenital long QT syndrome Long QT syndrome
Variation	info
Gene	KCNH2
CLNDBN	Congenital long QT syndrome Long QT syndrome
Reversed	1
HGVS	NC_000007.13:g.150647492G>A
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058091.3, RCV000458802.1,