rs886037745
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs886037745(-;TGTACTGC) |
| Make rs886037745(TGTACTGC;TGTACTGC) |
| Reference | GRCh38.p7 38.3/149 |
| Chromosome | 19 |
| Position | 49861264 |
| Gene | PNKP, PTOV1-AS2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs886037745 |
| dbSNP (classic) | rs886037745 |
| ClinGen | rs886037745 |
| ebi | rs886037745 |
| HLI | rs886037745 |
| Exac | rs886037745 |
| Gnomad | rs886037745 |
| Varsome | rs886037745 |
| LitVar | rs886037745 |
| Map | rs886037745 |
| PheGenI | rs886037745 |
| Biobank | rs886037745 |
| 1000 genomes | rs886037745 |
| hgdp | rs886037745 |
| ensembl | rs886037745 |
| geneview | rs886037745 |
| scholar | rs886037745 |
| rs886037745 | |
| pharmgkb | rs886037745 |
| gwascentral | rs886037745 |
| openSNP | rs886037745 |
| 23andMe | rs886037745 |
| SNPshot | rs886037745 |
| SNPdbe | rs886037745 |
| MSV3d | rs886037745 |
| GWAS Ctlg | rs886037745 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs886037745(TGTACTGC;TGTACTGC) |
| Alt | rs886037745(TGTACTGC;TGTACTGC) |
| Reference | Rs886037745(-;-) |
| Significance | Pathogenic |
| Disease | Ataxia-oculomotor apraxia 4 |
| Variation | info |
| Gene | PNKP PTOV1-AS2 |
| CLNDBN | Ataxia-oculomotor apraxia 4 |
| Reversed | 1 |
| HGVS | NC_000019.9:g.50364521_50364522insGCAGTACA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000167525.4, |
