rs191107774
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs191107774(C;T) |
| Make rs191107774(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 68812436 |
| Gene | CPT1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs191107774 |
| dbSNP (classic) | rs191107774 |
| ClinGen | rs191107774 |
| ebi | rs191107774 |
| HLI | rs191107774 |
| Exac | rs191107774 |
| Gnomad | rs191107774 |
| Varsome | rs191107774 |
| LitVar | rs191107774 |
| Map | rs191107774 |
| PheGenI | rs191107774 |
| Biobank | rs191107774 |
| 1000 genomes | rs191107774 |
| hgdp | rs191107774 |
| ensembl | rs191107774 |
| geneview | rs191107774 |
| scholar | rs191107774 |
| rs191107774 | |
| pharmgkb | rs191107774 |
| gwascentral | rs191107774 |
| openSNP | rs191107774 |
| 23andMe | rs191107774 |
| SNPshot | rs191107774 |
| SNPdbe | rs191107774 |
| MSV3d | rs191107774 |
| GWAS Ctlg | rs191107774 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs191107774(T;T) |
| Alt | rs191107774(T;T) |
| Reference | Rs191107774(C;C) |
| Significance | Pathogenic |
| Disease | not provided Carnitine palmitoyltransferase I deficiency |
| Variation | info |
| Gene | CPT1A |
| CLNDBN | not provided Carnitine palmitoyltransferase I deficiency |
| Reversed | 0 |
| HGVS | NC_000011.9:g.68579904C>T |
| CLNSRC | ClinVar |
| CLNACC | RCV000079913.3, RCV000177139.1, |
