rs730882242
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs730882242(C;T) |
| Make rs730882242(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 5 |
| Position | 141573518 |
| Gene | DIAPH1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs730882242 |
| dbSNP (classic) | rs730882242 |
| ClinGen | rs730882242 |
| ebi | rs730882242 |
| HLI | rs730882242 |
| Exac | rs730882242 |
| Gnomad | rs730882242 |
| Varsome | rs730882242 |
| LitVar | rs730882242 |
| Map | rs730882242 |
| PheGenI | rs730882242 |
| Biobank | rs730882242 |
| 1000 genomes | rs730882242 |
| hgdp | rs730882242 |
| ensembl | rs730882242 |
| geneview | rs730882242 |
| scholar | rs730882242 |
| rs730882242 | |
| pharmgkb | rs730882242 |
| gwascentral | rs730882242 |
| openSNP | rs730882242 |
| 23andMe | rs730882242 |
| SNPshot | rs730882242 |
| SNPdbe | rs730882242 |
| MSV3d | rs730882242 |
| GWAS Ctlg | rs730882242 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs730882242(T;T) |
| Alt | rs730882242(T;T) |
| Reference | Rs730882242(C;C) |
| Significance | Pathogenic |
| Disease | Failure to thrive Global developmental delay Microcephaly Seizure disorder Seizures |
| Variation | info |
| Gene | DIAPH1 |
| CLNDBN | Failure to thrive Global developmental delay Microcephaly Seizure disorder Seizures, cortical blindness, and microcephaly syndrome |
| Reversed | 1 |
| HGVS | NC_000005.9:g.140953085G>A |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000162177.1, RCV000201793.2, |
