rs199472941

Orientation

minus

Stabilized

minus

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

Make rs199472941(A;A)

Reference

GRCh38 38.1/142

Chromosome

7

Position

150951568

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199472941
dbSNP (classic)	rs199472941
ClinGen	rs199472941
ebi	rs199472941
HLI	rs199472941
Exac	rs199472941
Gnomad	rs199472941
Varsome	rs199472941
LitVar	rs199472941
Map	rs199472941
PheGenI	rs199472941
Biobank	rs199472941
1000 genomes	rs199472941
hgdp	rs199472941
ensembl	rs199472941
geneview	rs199472941
scholar	rs199472941
google	rs199472941
pharmgkb	rs199472941
gwascentral	rs199472941
openSNP	rs199472941
23andMe	rs199472941
SNPshot	rs199472941
SNPdbe	rs199472941
MSV3d	rs199472941
GWAS Ctlg	rs199472941

Max Magnitude

5

ClinVar
Risk	rs199472941(A;A) rs199472941(C;C) rs199472941(T;T)
Alt	rs199472941(A;A) rs199472941(C;C) rs199472941(T;T)
Reference	Rs199472941(G;G)
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.150648656C>A; NC_000007.13:g.150648656C>G; NC_000007.13:g.150648656C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000058004.3, RCV000058003.3, RCV000058002.3, RCV000413200.1,