rs1800172
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in complete genomics |
| Make rs1800172(A;A) |
| Make rs1800172(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 2847899 |
| Gene | KCNQ1, KCNQ1-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800172 |
| dbSNP (classic) | rs1800172 |
| ClinGen | rs1800172 |
| ebi | rs1800172 |
| HLI | rs1800172 |
| Exac | rs1800172 |
| Gnomad | rs1800172 |
| Varsome | rs1800172 |
| LitVar | rs1800172 |
| Map | rs1800172 |
| PheGenI | rs1800172 |
| Biobank | rs1800172 |
| 1000 genomes | rs1800172 |
| hgdp | rs1800172 |
| ensembl | rs1800172 |
| geneview | rs1800172 |
| scholar | rs1800172 |
| rs1800172 | |
| pharmgkb | rs1800172 |
| gwascentral | rs1800172 |
| openSNP | rs1800172 |
| 23andMe | rs1800172 |
| SNPshot | rs1800172 |
| SNPdbe | rs1800172 |
| MSV3d | rs1800172 |
| GWAS Ctlg | rs1800172 |
| GMAF | 0.01745 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs1800172(A;A) |
| Alt | rs1800172(A;A) |
| Reference | Rs1800172(G;G) |
| Significance | Other |
| Disease | Cardiac arrhythmia not provided not specified Romano-Ward syndrome Short QT syndrome Long QT syndrome Jervell and Lange-Nielsen syndrome Familial atrial fibrillation |
| Variation | info |
| Gene | KCNQ1-AS1 KCNQ1 |
| CLNDBN | Cardiac arrhythmia not provided not specified Romano-Ward syndrome short QT syndrome Long QT syndrome Jervell and Lange-Nielsen syndrome Familial atrial fibrillation |
| Reversed | 0 |
| HGVS | NC_000011.9:g.2869129G>A |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000030109.1, RCV000057650.3, RCV000150875.2, RCV000261157.1, RCV000264808.1, RCV000324628.1, RCV000359475.1, RCV000360577.1, |
[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 16487223
] Genetic polymorphisms in KCNQ1, HERG, KCNE1 and KCNE2 genes in the Chinese, Malay and Indian populations of Singapore.
[PMID 17221872] Genotype-phenotype correlations of KCNJ2 mutations in Japanese patients with Andersen-Tawil syndrome.
[PMID 18426444] Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia.
[PMID 155004] Impairment of olfactory perception in male rats by treatment with p-chlorophenylalanine and hydrocortisone.
[PMID 9799083] Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome.
[PMID 10807545] Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population.
[PMID 11761407] Evidence for a single nucleotide polymorphism in the KCNQ1 potassium channel that underlies susceptibility to life-threatening arrhythmias.
[PMID 15028050] Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome.
