rs199472978

Orientation

minus

Stabilized

minus

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

Make rs199472978(G;T)

Make rs199472978(T;T)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150951097

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199472978
dbSNP (classic)	rs199472978
ClinGen	rs199472978
ebi	rs199472978
HLI	rs199472978
Exac	rs199472978
Gnomad	rs199472978
Varsome	rs199472978
LitVar	rs199472978
Map	rs199472978
PheGenI	rs199472978
Biobank	rs199472978
1000 genomes	rs199472978
hgdp	rs199472978
ensembl	rs199472978
geneview	rs199472978
scholar	rs199472978
google	rs199472978
pharmgkb	rs199472978
gwascentral	rs199472978
openSNP	rs199472978
23andMe	rs199472978
SNPshot	rs199472978
SNPdbe	rs199472978
MSV3d	rs199472978
GWAS Ctlg	rs199472978

Max Magnitude

0

ClinVar
Risk	rs199472978(A;A) rs199472978(C;C) rs199472978(T;T)
Alt	rs199472978(A;A) rs199472978(C;C) rs199472978(T;T)
Reference	Rs199472978(G;G)
Significance	Untested
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.150648185C>A; NC_000007.13:g.150648185C>G; NC_000007.13:g.150648185C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058070.3, RCV000058069.3, RCV000058068.3, RCV000205745.2,