rs267608683
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs267608683(A;A) |
| Make rs267608683(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 106432361 |
| Gene | POLR3B |
| is a | snp |
| is | mentioned by |
| dbSNP | rs267608683 |
| dbSNP (classic) | rs267608683 |
| ClinGen | rs267608683 |
| ebi | rs267608683 |
| HLI | rs267608683 |
| Exac | rs267608683 |
| Gnomad | rs267608683 |
| Varsome | rs267608683 |
| LitVar | rs267608683 |
| Map | rs267608683 |
| PheGenI | rs267608683 |
| Biobank | rs267608683 |
| 1000 genomes | rs267608683 |
| hgdp | rs267608683 |
| ensembl | rs267608683 |
| geneview | rs267608683 |
| scholar | rs267608683 |
| rs267608683 | |
| pharmgkb | rs267608683 |
| gwascentral | rs267608683 |
| openSNP | rs267608683 |
| 23andMe | rs267608683 |
| SNPshot | rs267608683 |
| SNPdbe | rs267608683 |
| MSV3d | rs267608683 |
| GWAS Ctlg | rs267608683 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs267608683(A;A) |
| Alt | rs267608683(A;A) |
| Reference | Rs267608683(C;C) |
| Significance | Pathogenic |
| Disease | Hypomyelinating leukodystrophy 8 |
| Variation | info |
| Gene | POLR3B |
| CLNDBN | Hypomyelinating leukodystrophy 8, with or without oligodontia and/or hypogonadotropic hypogonadism |
| Reversed | 0 |
| HGVS | NC_000012.11:g.106826139C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000032279.4, |
