rs363717
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs363717(A;A) |
| Make rs363717(A;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 104782419 |
| Gene | ABCA1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs363717 |
| dbSNP (classic) | rs363717 |
| ClinGen | rs363717 |
| ebi | rs363717 |
| HLI | rs363717 |
| Exac | rs363717 |
| Gnomad | rs363717 |
| Varsome | rs363717 |
| LitVar | rs363717 |
| Map | rs363717 |
| PheGenI | rs363717 |
| Biobank | rs363717 |
| 1000 genomes | rs363717 |
| hgdp | rs363717 |
| ensembl | rs363717 |
| geneview | rs363717 |
| scholar | rs363717 |
| rs363717 | |
| pharmgkb | rs363717 |
| gwascentral | rs363717 |
| openSNP | rs363717 |
| 23andMe | rs363717 |
| SNPshot | rs363717 |
| SNPdbe | rs363717 |
| MSV3d | rs363717 |
| GWAS Ctlg | rs363717 |
| GMAF | 0.1515 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 21245421] Genetic Factors Underlying the Risk of Thalidomide-Related Neuropathy in Patients With Multiple Myeloma
[PMID 17685456
] Examining the effect of linkage disequilibrium between markers on the Type I error rate and power of nonparametric multipoint linkage analysis of two-generation and multigenerational pedigrees in the presence of missing genotype data.
[PMID 19606474] A survey of ABCA1 sequence variation confirms association with dementia.
[PMID 26722555] Association of ATP-binding cassette transporter A1 gene polymorphisms with plasma lipid variability and coronary heart disease risk.
| ClinVar | |
|---|---|
| Risk | rs363717(A;A) |
| Alt | rs363717(A;A) |
| Reference | Rs363717(G;G) |
| Significance | Non-pathogenic |
| Disease | Familial High Density Lipoprotein Deficiency Tangier disease |
| Variation | info |
| Gene | ABCA1 |
| CLNDBN | Familial High Density Lipoprotein Deficiency Tangier disease |
| Reversed | 1 |
| HGVS | NC_000009.11:g.107544700C>T |
| CLNSRC | |
| CLNACC | RCV000296142.1, RCV000394913.1, |
