rs863225242
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (T;T) | 0 | common in clinvar |
| Make rs863225242(-;-) |
| Make rs863225242(-;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 5 |
| Position | 141529181 |
| Gene | DIAPH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs863225242 |
| dbSNP (classic) | rs863225242 |
| ClinGen | rs863225242 |
| ebi | rs863225242 |
| HLI | rs863225242 |
| Exac | rs863225242 |
| Gnomad | rs863225242 |
| Varsome | rs863225242 |
| LitVar | rs863225242 |
| Map | rs863225242 |
| PheGenI | rs863225242 |
| Biobank | rs863225242 |
| 1000 genomes | rs863225242 |
| hgdp | rs863225242 |
| ensembl | rs863225242 |
| geneview | rs863225242 |
| scholar | rs863225242 |
| rs863225242 | |
| pharmgkb | rs863225242 |
| gwascentral | rs863225242 |
| openSNP | rs863225242 |
| 23andMe | rs863225242 |
| SNPshot | rs863225242 |
| SNPdbe | rs863225242 |
| MSV3d | rs863225242 |
| GWAS Ctlg | rs863225242 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs863225242(-;-) |
| Alt | rs863225242(-;-) |
| Reference | Rs863225242(T;T) |
| Significance | Pathogenic |
| Disease | Seizures |
| Variation | info |
| Gene | DIAPH1 |
| CLNDBN | Seizures, cortical blindness, and microcephaly syndrome |
| Reversed | 1 |
| HGVS | NC_000005.9:g.140908748delA |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000201796.2, |
