rs142812715
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs142812715(A;T) |
| Make rs142812715(T;T) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 10 |
| Position | 13124053 |
| Gene | OPTN |
| is a | snp |
| is | mentioned by |
| dbSNP | rs142812715 |
| dbSNP (classic) | rs142812715 |
| ClinGen | rs142812715 |
| ebi | rs142812715 |
| HLI | rs142812715 |
| Exac | rs142812715 |
| Gnomad | rs142812715 |
| Varsome | rs142812715 |
| LitVar | rs142812715 |
| Map | rs142812715 |
| PheGenI | rs142812715 |
| Biobank | rs142812715 |
| 1000 genomes | rs142812715 |
| hgdp | rs142812715 |
| ensembl | rs142812715 |
| geneview | rs142812715 |
| scholar | rs142812715 |
| rs142812715 | |
| pharmgkb | rs142812715 |
| gwascentral | rs142812715 |
| openSNP | rs142812715 |
| 23andMe | rs142812715 |
| SNPshot | rs142812715 |
| SNPdbe | rs142812715 |
| MSV3d | rs142812715 |
| GWAS Ctlg | rs142812715 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs142812715(T;T) |
| Alt | rs142812715(T;T) |
| Reference | Rs142812715(A;A) |
| Significance | Pathogenic |
| Disease | Motor neuron disease |
| Variation | info |
| Gene | OPTN |
| CLNDBN | Motor neuron disease |
| Reversed | 0 |
| HGVS | NC_000010.10:g.13166053A>T |
| CLNSRC | |
| CLNACC | RCV000492386.1, |
