rs1055176086
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 11 |
| Position | 68799217 |
| Gene | CPT1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1055176086 |
| dbSNP (classic) | rs1055176086 |
| ClinGen | rs1055176086 |
| ebi | rs1055176086 |
| HLI | rs1055176086 |
| Exac | rs1055176086 |
| Gnomad | rs1055176086 |
| Varsome | rs1055176086 |
| LitVar | rs1055176086 |
| Map | rs1055176086 |
| PheGenI | rs1055176086 |
| Biobank | rs1055176086 |
| 1000 genomes | rs1055176086 |
| hgdp | rs1055176086 |
| ensembl | rs1055176086 |
| geneview | rs1055176086 |
| scholar | rs1055176086 |
| rs1055176086 | |
| pharmgkb | rs1055176086 |
| gwascentral | rs1055176086 |
| openSNP | rs1055176086 |
| 23andMe | rs1055176086 |
| SNPshot | rs1055176086 |
| SNPdbe | rs1055176086 |
| MSV3d | rs1055176086 |
| GWAS Ctlg | rs1055176086 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs1055176086(G;G) |
| Alt | rs1055176086(G;G) |
| Reference | Rs1055176086(C;C) |
| Significance | Probable-Pathogenic |
| Disease | Carnitine palmitoyltransferase I deficiency |
| Variation | info |
| Gene | |
| CLNDBN | Carnitine palmitoyltransferase I deficiency |
| Reversed | 0 |
| HGVS | NC_000011.9:g.68566685C>G |
| CLNSRC | |
| CLNACC | RCV000409157.1, |
