rs1051338
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs1051338(A;C) |
| Make rs1051338(C;C) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 10 |
| Position | 89247603 |
| Gene | LIPA |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1051338 |
| dbSNP (classic) | rs1051338 |
| ClinGen | rs1051338 |
| ebi | rs1051338 |
| HLI | rs1051338 |
| Exac | rs1051338 |
| Gnomad | rs1051338 |
| Varsome | rs1051338 |
| LitVar | rs1051338 |
| Map | rs1051338 |
| PheGenI | rs1051338 |
| Biobank | rs1051338 |
| 1000 genomes | rs1051338 |
| hgdp | rs1051338 |
| ensembl | rs1051338 |
| geneview | rs1051338 |
| scholar | rs1051338 |
| rs1051338 | |
| pharmgkb | rs1051338 |
| gwascentral | rs1051338 |
| openSNP | rs1051338 |
| 23andMe | rs1051338 |
| SNPshot | rs1051338 |
| SNPdbe | rs1051338 |
| MSV3d | rs1051338 |
| GWAS Ctlg | rs1051338 |
| GMAF | 0.275 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
[PMID 22395809] Association of LIPA gene polymorphisms with obesity-related metabolic complications among severely obese patients
[PMID 16385451
] A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease.
[PMID 16730122] Influence of lysosomal acid lipase polymorphisms on chromosome 10 on the risk of Alzheimer's disease and cholesterol metabolism.
[PMID 288279971] Coronary Artery Disease-Associated LIPA Coding Variant rs1051338 Reduces Lysosomal Acid Lipase Levels and Activity in Lysosomes.
| ClinVar | |
|---|---|
| Risk | rs1051338(C;C) |
| Alt | rs1051338(C;C) |
| Reference | Rs1051338(A;A) |
| Significance | Non-pathogenic |
| Disease | not specified Wolman disease |
| Variation | info |
| Gene | LIPA |
| CLNDBN | not specified Wolman disease |
| Reversed | 1 |
| HGVS | NC_000010.10:g.91007360T>G |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000175562.2, RCV000350905.1, |
