rs34150427

plus

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

Make rs34150427(A;A)

Make rs34150427(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2847914

Gene	KCNQ1, KCNQ1-AS1

is a	snp
is	mentioned by
dbSNP	rs34150427
dbSNP (classic)	rs34150427
ClinGen	rs34150427
ebi	rs34150427
HLI	rs34150427
Exac	rs34150427
Gnomad	rs34150427
Varsome	rs34150427
LitVar	rs34150427
Map	rs34150427
PheGenI	rs34150427
Biobank	rs34150427
1000 genomes	rs34150427
hgdp	rs34150427
ensembl	rs34150427
geneview	rs34150427
scholar	rs34150427
google	rs34150427
pharmgkb	rs34150427
gwascentral	rs34150427
openSNP	rs34150427
23andMe	rs34150427
SNPshot	rs34150427
SNPdbe	rs34150427
MSV3d	rs34150427
GWAS Ctlg	rs34150427

GMAF

0.004591

Max Magnitude

0

ClinVar
Risk	rs34150427(A;A)
Alt	rs34150427(A;A)
Reference	Rs34150427(G;G)
Significance	Other
Disease	Cardiac arrhythmia not provided not specified Long QT syndrome Short QT syndrome Jervell and Lange-Nielsen syndrome Familial atrial fibrillation Romano-Ward syndrome
Variation	info
Gene	KCNQ1-AS1 KCNQ1
CLNDBN	Cardiac arrhythmia not provided not specified Long QT syndrome short QT syndrome Jervell and Lange-Nielsen syndrome Familial atrial fibrillation Romano-Ward syndrome
Reversed	0
HGVS	NC_000011.9:g.2869144G>A
CLNSRC	ClinVar LabCorp
CLNACC	RCV000030110.1, RCV000057651.3, RCV000216406.2, RCV000229585.3, RCV000281357.1, RCV000316585.1, RCV000375847.1, RCV000386352.1,

[PMID 14661677] Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.

[PMID 15913580] Sudden infant death syndrome: how significant are the cardiac channelopathies?

[PMID 19841300 ] Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.