rs120074188
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(G;G) | 0 | common in clinvar |
Make rs120074188(A;A) |
Make rs120074188(A;G) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2768902 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs120074188 |
dbSNP (classic) | rs120074188 |
ClinGen | rs120074188 |
ebi | rs120074188 |
HLI | rs120074188 |
Exac | rs120074188 |
Gnomad | rs120074188 |
Varsome | rs120074188 |
LitVar | rs120074188 |
Map | rs120074188 |
PheGenI | rs120074188 |
Biobank | rs120074188 |
1000 genomes | rs120074188 |
hgdp | rs120074188 |
ensembl | rs120074188 |
geneview | rs120074188 |
scholar | rs120074188 |
rs120074188 | |
pharmgkb | rs120074188 |
gwascentral | rs120074188 |
openSNP | rs120074188 |
23andMe | rs120074188 |
SNPshot | rs120074188 |
SNPdbe | rs120074188 |
MSV3d | rs120074188 |
GWAS Ctlg | rs120074188 |
Max Magnitude | 0 |
ClinVar | |
---|---|
Risk | rs120074188(A;A) |
Alt | rs120074188(A;A) |
Reference | Rs120074188(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, recessive Long QT syndrome, LQT1 subtype Congenital long QT syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.2790132G>A |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003280.3, RCV000046001.2, RCV000057600.3, RCV000182202.1, |
[PMID 10482963] Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.
[PMID 19716085] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
[PMID 19841300] Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.