rs2072183
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2072183(C;G) |
| Make rs2072183(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 44539581 |
| Gene | NPC1L1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2072183 |
| dbSNP (classic) | rs2072183 |
| ClinGen | rs2072183 |
| ebi | rs2072183 |
| HLI | rs2072183 |
| Exac | rs2072183 |
| Gnomad | rs2072183 |
| Varsome | rs2072183 |
| LitVar | rs2072183 |
| Map | rs2072183 |
| PheGenI | rs2072183 |
| Biobank | rs2072183 |
| 1000 genomes | rs2072183 |
| hgdp | rs2072183 |
| ensembl | rs2072183 |
| geneview | rs2072183 |
| scholar | rs2072183 |
| rs2072183 | |
| pharmgkb | rs2072183 |
| gwascentral | rs2072183 |
| openSNP | rs2072183 |
| 23andMe | rs2072183 |
| SNPshot | rs2072183 |
| SNPdbe | rs2072183 |
| MSV3d | rs2072183 |
| GWAS Ctlg | rs2072183 |
| GMAF | 0.2723 |
| Max Magnitude | 0 |
| ? | (C;C) (C;G) (G;G) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 20686565 ]
|
| Trait | |
| Title | Biological, clinical and population relevance of 95 loci for blood lipids. |
| Risk Allele | A |
| P-val | 4E-11 |
| Odds Ratio | 1.1700 None |
[PMID 22646906] Association of rs2072183 SNP and serum lipid levels in the Mulao and Han populations
[PMID 23482652] Novel gene-by-environment interactions: APOB and NPC1L1 variants affect the relationship between dietary and total plasma cholesterol
[PMID 24861377] Gene polymorphism and frequencies of the NPC1L1 Gene (rs2072183, rs217434 and rs217428) in Japanese patients with dyslipidemia
| GWAS snp | |
|---|---|
| PMID | [PMID 24097068]
|
| Trait | Cholesterol, total |
| Title | Discovery and refinement of loci associated with lipid levels. |
| Risk Allele | C |
| P-val | 4E-15 |
| Odds Ratio | .04 [NR] unit increase |
[PMID 25589339] Efficacy of Ezetimibe Is Not Related to NPC1L1 Gene Polymorphisms in a Pilot Study of Chilean Hypercholesterolemic Subjects
[PMID 25056759] Potential effects of NPC1L1 polymorphisms in protecting against clinical disease in a chinese family with sitosterolaemia
| ClinVar | |
|---|---|
| Risk | rs2072183(G;G) rs2072183(T;T) |
| Alt | rs2072183(G;G) rs2072183(T;T) |
| Reference | Rs2072183(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified |
| Variation | info |
| Gene | NPC1L1 |
| CLNDBN | not specified |
| Reversed | 1 |
| HGVS | NC_000007.13:g.44579180G>C |
| CLNSRC | |
| CLNACC | RCV000454514.1, |
[PMID 30260075] SNP rs688 Within the Low-Density Lipoprotein Receptor (LDL-R) Gene Associates with HCV Susceptibility.
[PMID 33167740] Association of NCP1L1 and HMGCR Gene Polymorphisms with Major Adverse Cardiac and Cerebrovascular Events in Patients with Three-Vessel Disease.
