rs2853579
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2853579(A;A) |
| Make rs2853579(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 104828991 |
| Gene | ABCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2853579 |
| dbSNP (classic) | rs2853579 |
| ClinGen | rs2853579 |
| ebi | rs2853579 |
| HLI | rs2853579 |
| Exac | rs2853579 |
| Gnomad | rs2853579 |
| Varsome | rs2853579 |
| LitVar | rs2853579 |
| Map | rs2853579 |
| PheGenI | rs2853579 |
| Biobank | rs2853579 |
| 1000 genomes | rs2853579 |
| hgdp | rs2853579 |
| ensembl | rs2853579 |
| geneview | rs2853579 |
| scholar | rs2853579 |
| rs2853579 | |
| pharmgkb | rs2853579 |
| gwascentral | rs2853579 |
| openSNP | rs2853579 |
| 23andMe | rs2853579 |
| SNPshot | rs2853579 |
| SNPdbe | rs2853579 |
| MSV3d | rs2853579 |
| GWAS Ctlg | rs2853579 |
| Merged from | Rs7031748 |
| GMAF | 0.3531 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
| ClinVar | |
|---|---|
| Risk | rs2853579(A;A) |
| Alt | rs2853579(A;A) |
| Reference | Rs2853579(C;C) |
| Significance | Non-pathogenic |
| Disease | Tangier disease Familial High Density Lipoprotein Deficiency |
| Variation | info |
| Gene | ABCA1 |
| CLNDBN | Tangier disease Familial High Density Lipoprotein Deficiency |
| Reversed | 1 |
| HGVS | NC_000009.11:g.107591272G>T |
| CLNSRC | |
| CLNACC | RCV000300380.1, RCV000395968.1, |
