rs2066714
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs2066714(A;G) |
| Make rs2066714(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 104824472 |
| Gene | ABCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2066714 |
| dbSNP (classic) | rs2066714 |
| ClinGen | rs2066714 |
| ebi | rs2066714 |
| HLI | rs2066714 |
| Exac | rs2066714 |
| Gnomad | rs2066714 |
| Varsome | rs2066714 |
| LitVar | rs2066714 |
| Map | rs2066714 |
| PheGenI | rs2066714 |
| Biobank | rs2066714 |
| 1000 genomes | rs2066714 |
| hgdp | rs2066714 |
| ensembl | rs2066714 |
| geneview | rs2066714 |
| scholar | rs2066714 |
| rs2066714 | |
| pharmgkb | rs2066714 |
| gwascentral | rs2066714 |
| openSNP | rs2066714 |
| 23andMe | rs2066714 |
| SNPshot | rs2066714 |
| SNPdbe | rs2066714 |
| MSV3d | rs2066714 |
| GWAS Ctlg | rs2066714 |
| Merged from | Rs4149313 |
| GMAF | 0.3655 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 17430597
] Apolipoprotein E levels in cerebrospinal fluid and the effects of ABCA1 polymorphisms.
[PMID 17855807] Maternal and fetal variation in genes of cholesterol metabolism is associated with preterm delivery.
[PMID 19041386] Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review.
[PMID 19406964] Association of genetic variants with chronic kidney disease in Japanese individuals.
[PMID 19606474] A survey of ABCA1 sequence variation confirms association with dementia.
[PMID 22668585] Association of gender, ABCA1 gene polymorphisms and lipid profile in Greek young nurses.
[PMID 23111454] Quantitative assessment of the effect of ABCA1 gene polymorphism on the risk of Alzheimer's disease.
[PMID 23262498] Impact of genetic factors on dyslipidemia in HIV-infected patients starting antiretroviral therapy.
[PMID 26243156] Functional and Structural Impact of ATP-Binding Cassette Transporter A1 R219K and I883M Gene Polymorphisms in Obese Children and Adolescents
| ClinVar | |
|---|---|
| Risk | rs2066714(G;G) |
| Alt | rs2066714(G;G) |
| Reference | Rs2066714(A;A) |
| 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.107586753T>C |
| CLNSRC | |
| CLNACC | RCV000310886.1, RCV000398007.1, |
