rs1805081
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 0 |
| Make rs1805081(A;A) |
| Make rs1805081(A;G) |
| Make rs1805081(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 18 |
| Position | 23560468 |
| Gene | NPC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1805081 |
| dbSNP (classic) | rs1805081 |
| ClinGen | rs1805081 |
| ebi | rs1805081 |
| HLI | rs1805081 |
| Exac | rs1805081 |
| Gnomad | rs1805081 |
| Varsome | rs1805081 |
| LitVar | rs1805081 |
| Map | rs1805081 |
| PheGenI | rs1805081 |
| Biobank | rs1805081 |
| 1000 genomes | rs1805081 |
| hgdp | rs1805081 |
| ensembl | rs1805081 |
| geneview | rs1805081 |
| scholar | rs1805081 |
| rs1805081 | |
| pharmgkb | rs1805081 |
| gwascentral | rs1805081 |
| openSNP | rs1805081 |
| 23andMe | rs1805081 |
| SNPshot | rs1805081 |
| SNPdbe | rs1805081 |
| MSV3d | rs1805081 |
| GWAS Ctlg | rs1805081 |
| GMAF | 0.2456 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
| GWAS snp | |
|---|---|
| PMID | [PMID 19151714] |
| Trait | Obesity |
| Title | Genome-wide association study for early-onset and morbid adult obesity identifies three new risk loci in European populations |
| Risk Allele | A |
| P-val | 3E-7 |
| Odds Ratio | 1.33 [1.08-1.75] |
[PMID 20955564
] Interaction of functional NPC1 gene Polymorphism with smoking on coronary heart disease
[PMID 20843981] Associations of six single nucleotide polymorphisms in obesity-related genes with BMI and risk of obesity in Chinese children
[PMID 21527513] Influence of physical inactivity on associations between single nucleotide polymorphisms and genetic predisposition to childhood obesity
[PMID 21912638] Studies of metabolic phenotypic correlates of 15 obesity associated gene variants
[PMID 18834923] Variation in NPC1, the gene encoding Niemann-Pick C1, a protein involved in intracellular cholesterol transport, is associated with Alzheimer disease and/or aging in the Polish population.
[PMID 19553259] Common body mass index-associated variants confer risk of extreme obesity.
[PMID 20127379] From monogenic to polygenic obesity: recent advances.
[PMID 20712903] Obesity and diabetes genes are associated with being born small for gestational age: results from the Auckland Birthweight Collaborative study.
[PMID 22430306] Evaluation of common genetic variants identified by GWAS for early onset and morbid obesity in population-based samples.
[PMID 23153210] Mammalian NPC1 genes may undergo positive selection and human polymorphisms associate with type 2 diabetes
[PMID 23424664] Study of 11 BMI-associated loci identified in GWAS for associations with central obesity in the Chinese children
[PMID 24269186] An obesity genetic risk score is associated with metabolic syndrome in Chinese children
[PMID 23471855] The genetics of childhood obesity and interaction with dietary macronutrients.
[PMID 23588626] Associations of obesity susceptibility loci with hypertension in Chinese children.
[PMID 25492288] [Impact of obesity-related gene polymorphism on risk of obesity and metabolic disorder in childhood]
| ClinVar | |
|---|---|
| Risk | rs1805081(G;G) |
| Alt | rs1805081(G;G) |
| Reference | rs1805081(A;A) |
| Significance | Other |
| Disease | not specified Niemann-Pick disease |
| Variation | info |
| Gene | NPC1 |
| CLNDBN | not specified Niemann-Pick disease, type C |
| Reversed | 1 |
| HGVS | NC_000018.9:g.21140432T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000078484.9, RCV000405719.1, |
