rs5351
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs5351(A;G) |
| Make rs5351(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 13 |
| Position | 77901178 |
| Gene | EDNRB, EDNRB-AS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs5351 |
| dbSNP (classic) | rs5351 |
| ClinGen | rs5351 |
| ebi | rs5351 |
| HLI | rs5351 |
| Exac | rs5351 |
| Gnomad | rs5351 |
| Varsome | rs5351 |
| LitVar | rs5351 |
| Map | rs5351 |
| PheGenI | rs5351 |
| Biobank | rs5351 |
| 1000 genomes | rs5351 |
| hgdp | rs5351 |
| ensembl | rs5351 |
| geneview | rs5351 |
| scholar | rs5351 |
| rs5351 | |
| pharmgkb | rs5351 |
| gwascentral | rs5351 |
| openSNP | rs5351 |
| 23andMe | rs5351 |
| SNPshot | rs5351 |
| SNPdbe | rs5351 |
| MSV3d | rs5351 |
| GWAS Ctlg | rs5351 |
| GMAF | 0.4509 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 17525706] In 630 patients with essential hypertension (EHT) among males significant differences in rs5351 and rs5333 influencing atherosclerosis
[PMID 15500681
] Detecting imbalanced expression of SNP alleles by minisequencing on microarrays.
[PMID 18454203] Differential allelic expression in the human genome: a robust approach to identify genetic and epigenetic cis-acting mechanisms regulating gene expression.
[PMID 25799405] Polymorphisms in Endothelin System Genes, Arsenic Levels and Obesity Risk
| ClinVar | |
|---|---|
| Risk | rs5351(C;C) rs5351(G;G) |
| Alt | rs5351(C;C) rs5351(G;G) |
| Reference | Rs5351(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified Waardenburg syndrome Hirschsprung Disease |
| Variation | info |
| Gene | EDNRB EDNRB-AS1 |
| CLNDBN | not specified Waardenburg syndrome Hirschsprung Disease, Recessive |
| Reversed | 1 |
| HGVS | NC_000013.10:g.78475313T>C |
| CLNSRC | |
| CLNACC | RCV000219248.2, RCV000263642.1, RCV000321151.1, |
[PMID 29097630] Effects of Endothelin-related Gene Polymorphisms and Aerobic Exercise Habit on Age-Related Arterial Stiffening: A 10-year Longitudinal Study.
