rs387907331
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | common in clinvar |
| Make rs387907331(-;A) |
| Make rs387907331(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | X |
| Position | 49076432 |
| Gene | WDR45 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs387907331 |
| dbSNP (old) | rs387907331 |
| ClinGen | rs387907331 |
| ebi | rs387907331 |
| HLI | rs387907331 |
| Exac | rs387907331 |
| Varsome | rs387907331 |
| Map | rs387907331 |
| PheGenI | rs387907331 |
| Biobank | rs387907331 |
| 1000 genomes | rs387907331 |
| hgdp | rs387907331 |
| ensembl | rs387907331 |
| gopubmed | rs387907331 |
| geneview | rs387907331 |
| scholar | rs387907331 |
| rs387907331 | |
| pharmgkb | rs387907331 |
| gwascentral | rs387907331 |
| openSNP | rs387907331 |
| 23andMe | rs387907331 |
| 23andMe all | rs387907331 |
| SNP Nexus | |
| SNPshot | rs387907331 |
| SNPdbe | rs387907331 |
| MSV3d | rs387907331 |
| GWAS Ctlg | rs387907331 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs387907331(A;A) |
| Alt | rs387907331(A;A) |
| Reference | Rs387907331(-;-) |
| Significance | Pathogenic |
| Disease | Neurodegeneration with brain iron accumulation 5 |
| Variation | info |
| Gene | WDR45 |
| CLNDBN | Neurodegeneration with brain iron accumulation 5 |
| Reversed | 1 |
| HGVS | NC_000023.10:g.48934091dupT |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000034831.5, |
