rs199472844

Orientation

minus

Stabilized

minus

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

Make rs199472844(T;T)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150974854

Gene	KCNH2, LOC107986861

is a	snp
is	mentioned by
dbSNP	rs199472844
dbSNP (classic)	rs199472844
ClinGen	rs199472844
ebi	rs199472844
HLI	rs199472844
Exac	rs199472844
Gnomad	rs199472844
Varsome	rs199472844
LitVar	rs199472844
Map	rs199472844
PheGenI	rs199472844
Biobank	rs199472844
1000 genomes	rs199472844
hgdp	rs199472844
ensembl	rs199472844
geneview	rs199472844
scholar	rs199472844
google	rs199472844
pharmgkb	rs199472844
gwascentral	rs199472844
openSNP	rs199472844
23andMe	rs199472844
SNPshot	rs199472844
SNPdbe	rs199472844
MSV3d	rs199472844
GWAS Ctlg	rs199472844

Max Magnitude

5

ClinVar
Risk	rs199472844(A;A) rs199472844(T;T)
Alt	rs199472844(A;A) rs199472844(T;T)
Reference	Rs199472844(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.150671942G>A; NC_000007.13:g.150671942G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000057933.3, RCV000182049.1, RCV000484322.1,