rs1799821
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs1799821(A;A) |
| Make rs1799821(A;G) |
| Make rs1799821(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 53210776 |
| Gene | CPT2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1799821 |
| dbSNP (classic) | rs1799821 |
| ClinGen | rs1799821 |
| ebi | rs1799821 |
| HLI | rs1799821 |
| Exac | rs1799821 |
| Gnomad | rs1799821 |
| Varsome | rs1799821 |
| LitVar | rs1799821 |
| Map | rs1799821 |
| PheGenI | rs1799821 |
| Biobank | rs1799821 |
| 1000 genomes | rs1799821 |
| hgdp | rs1799821 |
| ensembl | rs1799821 |
| geneview | rs1799821 |
| scholar | rs1799821 |
| rs1799821 | |
| pharmgkb | rs1799821 |
| gwascentral | rs1799821 |
| openSNP | rs1799821 |
| 23andMe | rs1799821 |
| SNPshot | rs1799821 |
| SNPdbe | rs1799821 |
| MSV3d | rs1799821 |
| GWAS Ctlg | rs1799821 |
| GMAF | 0.4995 |
| Max Magnitude | 0 |
| ? | (A;A) (A;G) (G;G) | 28 |
|---|---|---|
|
| ||
[PMID 15986317
] Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease.
[PMID 22809552] A common haplotype of carnitine palmitoyltransferase 1b is associated with the metabolic syndrome.
| ClinVar | |
|---|---|
| Risk | rs1799821(A;A) |
| Alt | rs1799821(A;A) |
| Reference | rs1799821(G;G) |
| Significance | Other |
| Disease | Encephalopathy not specified Carnitine palmitoyltransferase II deficiency |
| Variation | info |
| Gene | CPT2 |
| CLNDBN | Encephalopathy, acute, infection-induced, 4, susceptibility to not specified Carnitine palmitoyltransferase II deficiency |
| Reversed | 0 |
| HGVS | NC_000001.10:g.53676448G>A |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000023026.3, RCV000078116.6, RCV000202483.2, |
