rs63750307
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (-;ATCATG) | 8 | Early-onset Alzheimer's disease (predicted) |
| (ATCATG;ATCATG) | 0 | common/normal |
| Make rs63750307(-;-) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 14 |
| Position | 73170956 |
| Gene | PSEN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750307 |
| dbSNP (classic) | rs63750307 |
| ClinGen | rs63750307 |
| ebi | rs63750307 |
| HLI | rs63750307 |
| Exac | rs63750307 |
| Gnomad | rs63750307 |
| Varsome | rs63750307 |
| LitVar | rs63750307 |
| Map | rs63750307 |
| PheGenI | rs63750307 |
| Biobank | rs63750307 |
| 1000 genomes | rs63750307 |
| hgdp | rs63750307 |
| ensembl | rs63750307 |
| geneview | rs63750307 |
| scholar | rs63750307 |
| rs63750307 | |
| pharmgkb | rs63750307 |
| gwascentral | rs63750307 |
| openSNP | rs63750307 |
| 23andMe | rs63750307 |
| SNPshot | rs63750307 |
| SNPdbe | rs63750307 |
| MSV3d | rs63750307 |
| GWAS Ctlg | rs63750307 |
| Max Magnitude | 8 |
rs63750307, also known as DellM, I83_M84del, and c.247_252delATCATG, represents a mutation in the PSEN1 gene on chromosome 14.
This deletion, located in exon 4 of the PSEN1 gene, is considered to be a dominant mutation pathogenic for early-onset Alzheimer's disease.[PMID 11079548],[PMID 11084029
]
See also: AlzForum
