rs183130
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | lower HDL cholesterol | |
| (C;T) | lower HDL cholesterol | |
| (T;T) | normal risk |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 56957451 |
| Gene | CETP |
| is a | snp |
| is | mentioned by |
| dbSNP | rs183130 |
| dbSNP (classic) | rs183130 |
| ClinGen | rs183130 |
| ebi | rs183130 |
| HLI | rs183130 |
| Exac | rs183130 |
| Gnomad | rs183130 |
| Varsome | rs183130 |
| LitVar | rs183130 |
| Map | rs183130 |
| PheGenI | rs183130 |
| Biobank | rs183130 |
| 1000 genomes | rs183130 |
| hgdp | rs183130 |
| ensembl | rs183130 |
| geneview | rs183130 |
| scholar | rs183130 |
| rs183130 | |
| pharmgkb | rs183130 |
| gwascentral | rs183130 |
| openSNP | rs183130 |
| 23andMe | rs183130 |
| SNPshot | rs183130 |
| SNPdbe | rs183130 |
| MSV3d | rs183130 |
| GWAS Ctlg | rs183130 |
| GMAF | 0.2502 |
| Max Magnitude | 0 |
The (C) allele of rs183130 was associated with risk for lower high-density lipoprotein (HDL) cholesterol plasma levels in 3 independent population samples, including both Caucasians and African-Americans.[PMID 17952847
]
| ClinVar | |
|---|---|
| Risk | Rs183130(T;T) |
| Alt | Rs183130(T;T) |
| Reference | Rs183130(C;C) |
| Significance | Other |
| Disease | High density lipoprotein cholesterol level quantitative trait locus 10 |
| Variation | info |
| Gene | |
| CLNDBN | High density lipoprotein cholesterol level quantitative trait locus 10 |
| Reversed | 0 |
| HGVS | NC_000016.9:g.56991363C\x3d |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000019078.2, |
