rs104894252

Orientation

plus

Stabilized

plus

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

Make rs104894252(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2570715

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs104894252
dbSNP (classic)	rs104894252
ClinGen	rs104894252
ebi	rs104894252
HLI	rs104894252
Exac	rs104894252
Gnomad	rs104894252
Varsome	rs104894252
LitVar	rs104894252
Map	rs104894252
PheGenI	rs104894252
Biobank	rs104894252
1000 genomes	rs104894252
hgdp	rs104894252
ensembl	rs104894252
geneview	rs104894252
scholar	rs104894252
google	rs104894252
pharmgkb	rs104894252
gwascentral	rs104894252
openSNP	rs104894252
23andMe	rs104894252
SNPshot	rs104894252
SNPdbe	rs104894252
MSV3d	rs104894252
GWAS Ctlg	rs104894252

Max Magnitude

5

OMIM	607542
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894252(A;A) rs104894252(C;C)
Alt	rs104894252(A;A) rs104894252(C;C)
Reference	Rs104894252(G;G)
Significance	Pathogenic
Disease	Long QT syndrome 1 Long QT syndrome Congenital long QT syndrome not provided
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome 1 Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided
Reversed	0
HGVS	NC_000011.9:g.2591945G>A; NC_000011.9:g.2591945G>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003261.2, RCV000046083.2, RCV000057702.3, RCV000223880.2, RCV000057703.3,

[PMID 8528244] Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.

[PMID 10220144] Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

[PMID 10376919] Functional effects of mutations in KvLQT1 that cause long QT syndrome.

[PMID 8528244] Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.