rs1804689
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1804689(A;A) |
| Make rs1804689(A;C) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 98445350 |
| Gene | HPS1, LOC101927278 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1804689 |
| dbSNP (classic) | rs1804689 |
| ClinGen | rs1804689 |
| ebi | rs1804689 |
| HLI | rs1804689 |
| Exac | rs1804689 |
| Gnomad | rs1804689 |
| Varsome | rs1804689 |
| LitVar | rs1804689 |
| Map | rs1804689 |
| PheGenI | rs1804689 |
| Biobank | rs1804689 |
| 1000 genomes | rs1804689 |
| hgdp | rs1804689 |
| ensembl | rs1804689 |
| geneview | rs1804689 |
| scholar | rs1804689 |
| rs1804689 | |
| pharmgkb | rs1804689 |
| gwascentral | rs1804689 |
| openSNP | rs1804689 |
| 23andMe | rs1804689 |
| SNPshot | rs1804689 |
| SNPdbe | rs1804689 |
| MSV3d | rs1804689 |
| GWAS Ctlg | rs1804689 |
| GMAF | 0.3072 |
| Max Magnitude | 0 |
[PMID 22403240
] Associations Between Incident Ischemic Stroke Events and Stroke and Cardiovascular Disease-Related GWAS SNPs in the Population Architecture Using Genomics and Epidemiology (PAGE) Study
[PMID 16385451
] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
[PMID 19023099
] Gene variants associated with ischemic stroke: the cardiovascular health study.
| ClinVar | |
|---|---|
| Risk | rs1804689(A;A) |
| Alt | rs1804689(A;A) |
| Reference | Rs1804689(C;C) |
| Significance | Non-pathogenic |
| Disease | Hermansky-Pudlak syndrome |
| Variation | info |
| Gene | LOC101927278 HPS1 |
| CLNDBN | Hermansky-Pudlak syndrome |
| Reversed | 1 |
| HGVS | NC_000010.10:g.100205107G>T |
| CLNSRC | |
| CLNACC | RCV000292061.1, |
