rs199472999

Orientation

minus

Stabilized

minus

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

Make rs199472999(C;C)

Make rs199472999(C;T)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150949034

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199472999
dbSNP (classic)	rs199472999
ClinGen	rs199472999
ebi	rs199472999
HLI	rs199472999
Exac	rs199472999
Gnomad	rs199472999
Varsome	rs199472999
LitVar	rs199472999
Map	rs199472999
PheGenI	rs199472999
Biobank	rs199472999
1000 genomes	rs199472999
hgdp	rs199472999
ensembl	rs199472999
geneview	rs199472999
scholar	rs199472999
google	rs199472999
pharmgkb	rs199472999
gwascentral	rs199472999
openSNP	rs199472999
23andMe	rs199472999
SNPshot	rs199472999
SNPdbe	rs199472999
MSV3d	rs199472999
GWAS Ctlg	rs199472999

Max Magnitude

0

ClinVar
Risk	rs199472999(C;C) rs199472999(G;G)
Alt	rs199472999(C;C) rs199472999(G;G)
Reference	Rs199472999(T;T)
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.150646122A>C; NC_000007.13:g.150646122A>G
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058119.2, RCV000181862.1, RCV000474113.1, RCV000058118.2, RCV000182046.1,