rs199473518

Orientation

minus

Stabilized

minus

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

Make rs199473518(A;A)

Make rs199473518(A;G)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150951700

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199473518
dbSNP (classic)	rs199473518
ClinGen	rs199473518
ebi	rs199473518
HLI	rs199473518
Exac	rs199473518
Gnomad	rs199473518
Varsome	rs199473518
LitVar	rs199473518
Map	rs199473518
PheGenI	rs199473518
Biobank	rs199473518
1000 genomes	rs199473518
hgdp	rs199473518
ensembl	rs199473518
geneview	rs199473518
scholar	rs199473518
google	rs199473518
pharmgkb	rs199473518
gwascentral	rs199473518
openSNP	rs199473518
23andMe	rs199473518
SNPshot	rs199473518
SNPdbe	rs199473518
MSV3d	rs199473518
GWAS Ctlg	rs199473518

Max Magnitude

0

ClinVar
Risk	rs199473518(A;A) rs199473518(C;C)
Alt	rs199473518(A;A) rs199473518(C;C)
Reference	Rs199473518(G;G)
Significance	Probable-Pathogenic
Disease	not provided Congenital long QT syndrome
Variation	info
Gene	KCNH2
CLNDBN	not provided Congenital long QT syndrome
Reversed	1
HGVS	NC_000007.13:g.150648788C>G; NC_000007.13:g.150648788C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000181810.2, RCV000057947.3,