rs1137617

minus

Geno	Mag	Summary
(A;T)	4	potential cardiac arrhythmia
(C;C)	0	common
(C;T)	0	common
(T;T)	0	common in clinvar

Reference

GRCh38.p2 38.2/146

Chromosome

7

Position

150951110

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs1137617
dbSNP (classic)	rs1137617
ClinGen	rs1137617
ebi	rs1137617
HLI	rs1137617
Exac	rs1137617
Gnomad	rs1137617
Varsome	rs1137617
LitVar	rs1137617
Map	rs1137617
PheGenI	rs1137617
Biobank	rs1137617
1000 genomes	rs1137617
hgdp	rs1137617
ensembl	rs1137617
geneview	rs1137617
scholar	rs1137617
google	rs1137617
pharmgkb	rs1137617
gwascentral	rs1137617
openSNP	rs1137617
23andMe	rs1137617
SNPshot	rs1137617
SNPdbe	rs1137617
MSV3d	rs1137617
GWAS Ctlg	rs1137617

Max Magnitude

4

rs1137617 represents a variant in the KCNH2 gene on chromosome 7.

There are several reported alleles for this SNP. The rs1137617(C) and (T) alleles, as reported in the dbSNP/minus orientation, are both common and encode the same amino acid (tyrosine; TYR).

However, the rs1137617(A) allele is a nonsense mutation, encoding a stop codon, and it is considered pathogenic for cardiac arrhythmia by a (single) source in ClinVar. This is potentially inherited in a dominant manner.

ClinVar
Risk	rs1137617(A;A) Rs1137617(C;C) rs1137617(G;G)
Alt	rs1137617(A;A) Rs1137617(C;C) rs1137617(G;G)
Reference	Rs1137617(T;T)
Significance	Pathogenic
Disease	not specified Cardiovascular phenotype Long QT syndrome not provided
Variation	info
Gene	KCNH2
CLNDBN	not specified Cardiovascular phenotype Long QT syndrome not provided
Reversed	1
HGVS	NC_000007.13:g.150648198A>G; NC_000007.13:g.150648198A>T
CLNSRC
CLNACC	RCV000181727.2, RCV000253499.1, RCV000283094.1, RCV000181832.1,