rs63750004
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 7 | Alzheimer's disease |
| (T;T) | 0 | common/normal |
| Make rs63750004(C;C) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 14 |
| Position | 73173655 |
| Gene | PSEN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750004 |
| dbSNP (classic) | rs63750004 |
| ClinGen | rs63750004 |
| ebi | rs63750004 |
| HLI | rs63750004 |
| Exac | rs63750004 |
| Gnomad | rs63750004 |
| Varsome | rs63750004 |
| LitVar | rs63750004 |
| Map | rs63750004 |
| PheGenI | rs63750004 |
| Biobank | rs63750004 |
| 1000 genomes | rs63750004 |
| hgdp | rs63750004 |
| ensembl | rs63750004 |
| geneview | rs63750004 |
| scholar | rs63750004 |
| rs63750004 | |
| pharmgkb | rs63750004 |
| gwascentral | rs63750004 |
| openSNP | rs63750004 |
| 23andMe | rs63750004 |
| SNPshot | rs63750004 |
| SNPdbe | rs63750004 |
| MSV3d | rs63750004 |
| GWAS Ctlg | rs63750004 |
| Max Magnitude | 7 |
rs63750004, also known as c.428T>A, Ile143Asn and I143D, and also c.428T>C, Ile143Thr or I143T, is a SNP in the presenilin 1 PSEN1 gene.
Inherited as an autosomal dominant, the rare rs63750004(A) and rs63750004(C) alleles are both considered pathogenic for early-onset Alzheimer's disease in AlzForum.
Both are reported in [PMID 28350801
] to be a "definitely" pathogenic mutation.
| ClinVar | |
|---|---|
| Risk | rs63750004(C;C) |
| Alt | rs63750004(C;C) |
| Reference | Rs63750004(T;T) |
| Significance | Untested |
| Disease | not provided |
| Variation | info |
| Gene | PSEN1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000014.8:g.73640363T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000084308.1, |
