rs140709867
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs140709867(C;T) |
| Make rs140709867(T;T) |
| Reference | GRCh38 38.1/142 |
| Chromosome | 17 |
| Position | 42565668 |
| Gene | COASY, MLX |
| is a | snp |
| is | mentioned by |
| dbSNP | rs140709867 |
| dbSNP (classic) | rs140709867 |
| ClinGen | rs140709867 |
| ebi | rs140709867 |
| HLI | rs140709867 |
| Exac | rs140709867 |
| Gnomad | rs140709867 |
| Varsome | rs140709867 |
| LitVar | rs140709867 |
| Map | rs140709867 |
| PheGenI | rs140709867 |
| Biobank | rs140709867 |
| 1000 genomes | rs140709867 |
| hgdp | rs140709867 |
| ensembl | rs140709867 |
| geneview | rs140709867 |
| scholar | rs140709867 |
| rs140709867 | |
| pharmgkb | rs140709867 |
| gwascentral | rs140709867 |
| openSNP | rs140709867 |
| 23andMe | rs140709867 |
| SNPshot | rs140709867 |
| SNPdbe | rs140709867 |
| MSV3d | rs140709867 |
| GWAS Ctlg | rs140709867 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs140709867(A;A) rs140709867(T;T) |
| Alt | rs140709867(A;A) rs140709867(T;T) |
| Reference | Rs140709867(C;C) |
| Significance | Pathogenic |
| Disease | Neurodegeneration with brain iron accumulation 6 |
| Variation | info |
| Gene | COASY MLX |
| CLNDBN | Neurodegeneration with brain iron accumulation 6 |
| Reversed | 0 |
| HGVS | NC_000017.10:g.40717686C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000087062.3, |
