rs2853578
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs2853578(A;G) |
| Make rs2853578(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 104831027 |
| Gene | ABCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2853578 |
| dbSNP (classic) | rs2853578 |
| ClinGen | rs2853578 |
| ebi | rs2853578 |
| HLI | rs2853578 |
| Exac | rs2853578 |
| Gnomad | rs2853578 |
| Varsome | rs2853578 |
| LitVar | rs2853578 |
| Map | rs2853578 |
| PheGenI | rs2853578 |
| Biobank | rs2853578 |
| 1000 genomes | rs2853578 |
| hgdp | rs2853578 |
| ensembl | rs2853578 |
| geneview | rs2853578 |
| scholar | rs2853578 |
| rs2853578 | |
| pharmgkb | rs2853578 |
| gwascentral | rs2853578 |
| openSNP | rs2853578 |
| 23andMe | rs2853578 |
| SNPshot | rs2853578 |
| SNPdbe | rs2853578 |
| MSV3d | rs2853578 |
| GWAS Ctlg | rs2853578 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs2853578(G;G) |
| Alt | rs2853578(G;G) |
| Reference | Rs2853578(A;A) |
| Significance | Pathogenic |
| Disease | Tangier disease |
| Variation | info |
| Gene | ABCA1 |
| CLNDBN | Tangier disease |
| Reversed | 1 |
| HGVS | NC_000009.11:g.107593308T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000010093.4, |
[PMID 19041386
] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
