rs371802902
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs371802902(A;G) |
| Make rs371802902(G;G) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 6 |
| Position | 43519412 |
| Gene | POLR1C |
| is a | snp |
| is | mentioned by |
| dbSNP | rs371802902 |
| dbSNP (classic) | rs371802902 |
| ClinGen | rs371802902 |
| ebi | rs371802902 |
| HLI | rs371802902 |
| Exac | rs371802902 |
| Gnomad | rs371802902 |
| Varsome | rs371802902 |
| LitVar | rs371802902 |
| Map | rs371802902 |
| PheGenI | rs371802902 |
| Biobank | rs371802902 |
| 1000 genomes | rs371802902 |
| hgdp | rs371802902 |
| ensembl | rs371802902 |
| geneview | rs371802902 |
| scholar | rs371802902 |
| rs371802902 | |
| pharmgkb | rs371802902 |
| gwascentral | rs371802902 |
| openSNP | rs371802902 |
| 23andMe | rs371802902 |
| SNPshot | rs371802902 |
| SNPdbe | rs371802902 |
| MSV3d | rs371802902 |
| GWAS Ctlg | rs371802902 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs371802902(G;G) |
| Alt | rs371802902(G;G) |
| Reference | Rs371802902(A;A) |
| Significance | Pathogenic |
| Disease | Leukodystrophy |
| Variation | info |
| Gene | POLR1C |
| CLNDBN | Leukodystrophy, hypomyelinating, 11 |
| Reversed | 0 |
| HGVS | NC_000006.11:g.43487150A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000186584.3, |
