rs199473522

Orientation

minus

Stabilized

minus

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

Make rs199473522(A;A)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150951583

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199473522
dbSNP (classic)	rs199473522
ClinGen	rs199473522
ebi	rs199473522
HLI	rs199473522
Exac	rs199473522
Gnomad	rs199473522
Varsome	rs199473522
LitVar	rs199473522
Map	rs199473522
PheGenI	rs199473522
Biobank	rs199473522
1000 genomes	rs199473522
hgdp	rs199473522
ensembl	rs199473522
geneview	rs199473522
scholar	rs199473522
google	rs199473522
pharmgkb	rs199473522
gwascentral	rs199473522
openSNP	rs199473522
23andMe	rs199473522
SNPshot	rs199473522
SNPdbe	rs199473522
MSV3d	rs199473522
GWAS Ctlg	rs199473522

Max Magnitude

5

ClinVar
Risk	rs199473522(A;A)
Alt	rs199473522(A;A)
Reference	Rs199473522(G;G)
Significance	Pathogenic
Disease	Congenital long QT syndrome not provided Long QT syndrome
Variation	info
Gene	KCNH2
CLNDBN	Congenital long QT syndrome not provided Long QT syndrome
Reversed	1
HGVS	NC_000007.13:g.150648671C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000057997.3, RCV000181821.2, RCV000205578.1,