rs63751391
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs63751391(G;T) |
| Make rs63751391(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 46010395 |
| Gene | MAPT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63751391 |
| dbSNP (classic) | rs63751391 |
| ClinGen | rs63751391 |
| ebi | rs63751391 |
| HLI | rs63751391 |
| Exac | rs63751391 |
| Gnomad | rs63751391 |
| Varsome | rs63751391 |
| LitVar | rs63751391 |
| Map | rs63751391 |
| PheGenI | rs63751391 |
| Biobank | rs63751391 |
| 1000 genomes | rs63751391 |
| hgdp | rs63751391 |
| ensembl | rs63751391 |
| geneview | rs63751391 |
| scholar | rs63751391 |
| rs63751391 | |
| pharmgkb | rs63751391 |
| gwascentral | rs63751391 |
| openSNP | rs63751391 |
| 23andMe | rs63751391 |
| SNPshot | rs63751391 |
| SNPdbe | rs63751391 |
| MSV3d | rs63751391 |
| GWAS Ctlg | rs63751391 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs63751391(T;T) |
| Alt | rs63751391(T;T) |
| Reference | Rs63751391(G;G) |
| Significance | Pathogenic |
| Disease | Progressive supranuclear ophthalmoplegia not provided |
| Variation | info |
| Gene | MAPT |
| CLNDBN | Progressive supranuclear ophthalmoplegia not provided |
| Reversed | 0 |
| HGVS | NC_000017.10:g.44087761G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015339.22, RCV000084529.1, |
