rs6544718
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | |
| (T;T) | 0 | common in clinvar |
| Make rs6544718(C;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 43877786 |
| Gene | ABCG8 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6544718 |
| dbSNP (classic) | rs6544718 |
| ClinGen | rs6544718 |
| ebi | rs6544718 |
| HLI | rs6544718 |
| Exac | rs6544718 |
| Gnomad | rs6544718 |
| Varsome | rs6544718 |
| LitVar | rs6544718 |
| Map | rs6544718 |
| PheGenI | rs6544718 |
| Biobank | rs6544718 |
| 1000 genomes | rs6544718 |
| hgdp | rs6544718 |
| ensembl | rs6544718 |
| geneview | rs6544718 |
| scholar | rs6544718 |
| rs6544718 | |
| pharmgkb | rs6544718 |
| gwascentral | rs6544718 |
| openSNP | rs6544718 |
| 23andMe | rs6544718 |
| SNPshot | rs6544718 |
| SNPdbe | rs6544718 |
| MSV3d | rs6544718 |
| GWAS Ctlg | rs6544718 |
| GMAF | 0.1065 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 15996216
] Sitosterolaemia in Switzerland: molecular genetics links the US Amish-Mennonites to their European roots.
[PMID 16507104] A detailed Hapmap of the Sitosterolemia locus spanning 69 kb; differences between Caucasians and African-Americans.
[PMID 20170916] Association of selected ABC gene family single nucleotide polymorphisms with postprandial lipoproteins: results from the population-based Hortega study.
[PMID 25920552] Lipids, obesity and gallbladder disease in women: insights from genetic studies using the cardiovascular gene-centric 50K SNP array
| ClinVar | |
|---|---|
| Risk | Rs6544718(C;C) rs6544718(G;G) |
| Alt | Rs6544718(C;C) rs6544718(G;G) |
| Reference | Rs6544718(T;T) |
| Significance | Non-pathogenic |
| Disease | Sitosterolemia |
| Variation | info |
| Gene | ABCG8 |
| CLNDBN | Sitosterolemia |
| Reversed | 0 |
| HGVS | NC_000002.11:g.44104925T>C |
| CLNSRC | |
| CLNACC | RCV000282782.1, |
