rs3806471
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs3806471(A;C) |
| Make rs3806471(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 43839035 |
| Gene | ABCG5, ABCG8 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3806471 |
| dbSNP (classic) | rs3806471 |
| ClinGen | rs3806471 |
| ebi | rs3806471 |
| HLI | rs3806471 |
| Exac | rs3806471 |
| Gnomad | rs3806471 |
| Varsome | rs3806471 |
| LitVar | rs3806471 |
| Map | rs3806471 |
| PheGenI | rs3806471 |
| Biobank | rs3806471 |
| 1000 genomes | rs3806471 |
| hgdp | rs3806471 |
| ensembl | rs3806471 |
| geneview | rs3806471 |
| scholar | rs3806471 |
| rs3806471 | |
| pharmgkb | rs3806471 |
| gwascentral | rs3806471 |
| openSNP | rs3806471 |
| 23andMe | rs3806471 |
| SNPshot | rs3806471 |
| SNPdbe | rs3806471 |
| MSV3d | rs3806471 |
| GWAS Ctlg | rs3806471 |
| GMAF | 0.4697 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
[PMID 22655090
] ATP-binding cassette transporter G5 and G8 polymorphisms and several environmental factors with serum lipid levels
[PMID 16507104] A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.
[PMID 19005228] The effects of ABCG5/G8 polymorphisms on plasma HDL cholesterol concentrations depend on smoking habit in the Boston Puerto Rican Health Study.
| ClinVar | |
|---|---|
| Risk | rs3806471(C;C) rs3806471(T;T) |
| Alt | rs3806471(C;C) rs3806471(T;T) |
| Reference | Rs3806471(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified Sitosterolemia |
| Variation | info |
| Gene | ABCG5 ABCG8 |
| CLNDBN | not specified Sitosterolemia |
| Reversed | 1 |
| HGVS | NC_000002.11:g.44066174T>G |
| CLNSRC | |
| CLNACC | RCV000173521.1, RCV000280268.1, |
