rs1800977
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common/normal |
| Make rs1800977(C;T) |
| Make rs1800977(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 104928169 |
| Gene | ABCA1, LOC105376196 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1800977 |
| dbSNP (classic) | rs1800977 |
| ClinGen | rs1800977 |
| ebi | rs1800977 |
| HLI | rs1800977 |
| Exac | rs1800977 |
| Gnomad | rs1800977 |
| Varsome | rs1800977 |
| LitVar | rs1800977 |
| Map | rs1800977 |
| PheGenI | rs1800977 |
| Biobank | rs1800977 |
| 1000 genomes | rs1800977 |
| hgdp | rs1800977 |
| ensembl | rs1800977 |
| geneview | rs1800977 |
| scholar | rs1800977 |
| rs1800977 | |
| pharmgkb | rs1800977 |
| gwascentral | rs1800977 |
| openSNP | rs1800977 |
| 23andMe | rs1800977 |
| SNPshot | rs1800977 |
| SNPdbe | rs1800977 |
| MSV3d | rs1800977 |
| GWAS Ctlg | rs1800977 |
| GMAF | 0.3416 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
The -14C->T polymorphism rs1800977 of the ABCA1 gene was significantly associated with atherothrombotic cerebral infarction in a study of 3,400+ Japanese adults.[PMID 18566305]
[PMID 19446537] Interaction between HMGCR and ABCA1 cholesterol-related genes modulates Alzheimer's disease risk
[PMID 19041386
] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
[PMID 21840005] ABCA1 impacts athero-thrombotic risk and 10-year survival in a contemporary secondary prevention setting.
[PMID 25671407] A Systems Genetics Approach to Dyslipidemia in Children and Adolescents
[PMID 26451383] Association of ATP-Binding Cassette Transporter A1 Gene Polymorphisms in Type 2 Diabetes Mellitus among Malaysians
| ClinVar | |
|---|---|
| Risk | rs1800977(T;T) |
| Alt | rs1800977(T;T) |
| Reference | Rs1800977(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.107690450G>A |
| CLNSRC | |
| CLNACC | RCV000274172.1, RCV000332240.1, |
[PMID 31006134] ABCA1 variants rs2230806 (R219K), rs4149313 (M8831I), and rs9282541 (R230C) are associated with susceptibility to coronary heart disease.
