rs120074187

Orientation

plus

Stabilized

plus

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

Make rs120074187(A;A)

Make rs120074187(A;G)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2572963

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs120074187
dbSNP (classic)	rs120074187
ClinGen	rs120074187
ebi	rs120074187
HLI	rs120074187
Exac	rs120074187
Gnomad	rs120074187
Varsome	rs120074187
LitVar	rs120074187
Map	rs120074187
PheGenI	rs120074187
Biobank	rs120074187
1000 genomes	rs120074187
hgdp	rs120074187
ensembl	rs120074187
geneview	rs120074187
scholar	rs120074187
google	rs120074187
pharmgkb	rs120074187
gwascentral	rs120074187
openSNP	rs120074187
23andMe	rs120074187
SNPshot	rs120074187
SNPdbe	rs120074187
MSV3d	rs120074187
GWAS Ctlg	rs120074187

Max Magnitude

0

OMIM	607542
Desc
Variant	0017
Related	also

ClinVar
Risk	rs120074187(A;A)
Alt	rs120074187(A;A)
Reference	Rs120074187(G;G)
Significance	Pathogenic
Disease	Long QT syndrome 1 not provided not specified
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome 1 not provided not specified
Reversed	0
HGVS	NC_000011.9:g.2594193G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003276.2, RCV000057789.3, RCV000182128.4,

[PMID 9641694] A recessive variant of the Romano-Ward long-QT syndrome?

[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

[PMID 14678125] Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.

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