rs104894255

Orientation

plus

Stabilized

plus

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

Make rs104894255(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2583459

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs104894255
dbSNP (classic)	rs104894255
ClinGen	rs104894255
ebi	rs104894255
HLI	rs104894255
Exac	rs104894255
Gnomad	rs104894255
Varsome	rs104894255
LitVar	rs104894255
Map	rs104894255
PheGenI	rs104894255
Biobank	rs104894255
1000 genomes	rs104894255
hgdp	rs104894255
ensembl	rs104894255
geneview	rs104894255
scholar	rs104894255
google	rs104894255
pharmgkb	rs104894255
gwascentral	rs104894255
openSNP	rs104894255
23andMe	rs104894255
SNPshot	rs104894255
SNPdbe	rs104894255
MSV3d	rs104894255
GWAS Ctlg	rs104894255

Max Magnitude

5

OMIM	607542
Desc
Variant	0003
Related	also

ClinVar
Risk	rs104894255(A;A) rs104894255(C;C) rs104894255(T;T)
Alt	rs104894255(A;A) rs104894255(C;C) rs104894255(T;T)
Reference	Rs104894255(G;G)
Significance	Pathogenic
Disease	Long QT syndrome Congenital long QT syndrome not provided
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided
Reversed	0
HGVS	NC_000011.9:g.2604689G>A; NC_000011.9:g.2604689G>C; NC_000011.9:g.2604689G>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000046174.2, RCV000057818.3, RCV000182139.1, RCV000046175.2, RCV000057819.3, RCV000182140.1,

[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

[PMID 12402336] DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.