rs144230667
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs144230667(A;T) |
| Make rs144230667(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 2 |
| Position | 210600635 |
| Gene | CPS1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs144230667 |
| dbSNP (classic) | rs144230667 |
| ClinGen | rs144230667 |
| ebi | rs144230667 |
| HLI | rs144230667 |
| Exac | rs144230667 |
| Gnomad | rs144230667 |
| Varsome | rs144230667 |
| LitVar | rs144230667 |
| Map | rs144230667 |
| PheGenI | rs144230667 |
| Biobank | rs144230667 |
| 1000 genomes | rs144230667 |
| hgdp | rs144230667 |
| ensembl | rs144230667 |
| geneview | rs144230667 |
| scholar | rs144230667 |
| rs144230667 | |
| pharmgkb | rs144230667 |
| gwascentral | rs144230667 |
| openSNP | rs144230667 |
| 23andMe | rs144230667 |
| SNPshot | rs144230667 |
| SNPdbe | rs144230667 |
| MSV3d | rs144230667 |
| GWAS Ctlg | rs144230667 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs144230667(T;T) |
| Alt | rs144230667(T;T) |
| Reference | Rs144230667(A;A) |
| Significance | Probable-Pathogenic |
| Disease | not provided |
| Variation | info |
| Gene | CPS1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000002.11:g.211465359A>T |
| CLNSRC | |
| CLNACC | RCV000185817.1, |
