rs63751272
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;C) | 7 | Alzheimer's disease |
| (A;T) | 7 | Alzheimer's disease |
| Make rs63751272(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 73173587 |
| Gene | PSEN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63751272 |
| dbSNP (classic) | rs63751272 |
| ClinGen | rs63751272 |
| ebi | rs63751272 |
| HLI | rs63751272 |
| Exac | rs63751272 |
| Gnomad | rs63751272 |
| Varsome | rs63751272 |
| LitVar | rs63751272 |
| Map | rs63751272 |
| PheGenI | rs63751272 |
| Biobank | rs63751272 |
| 1000 genomes | rs63751272 |
| hgdp | rs63751272 |
| ensembl | rs63751272 |
| geneview | rs63751272 |
| scholar | rs63751272 |
| rs63751272 | |
| pharmgkb | rs63751272 |
| gwascentral | rs63751272 |
| openSNP | rs63751272 |
| 23andMe | rs63751272 |
| SNPshot | rs63751272 |
| SNPdbe | rs63751272 |
| MSV3d | rs63751272 |
| GWAS Ctlg | rs63751272 |
| Max Magnitude | 7 |
rs63751272, also known as c.360A>C, c.360A>T, E120D, or p.Glu120Asp, is a SNP in the presenilin 1 PSEN1 gene.
Inherited as an autosomal dominant, the rare rs63751272(T) and rs63751272(C) alleles are both considered pathogenic for early-onset Alzheimer's disease according to ClinVar, OMIM and/or AlzForum.
23andMe name for c.360A>T variant: i5047575
Glu120Asp is reported in [PMID 28350801
] to be a "definitely" pathogenic mutation.
| ClinVar | |
|---|---|
| Risk | rs63751272(T;T) |
| Alt | rs63751272(T;T) |
| Reference | Rs63751272(A;A) |
| Significance | Pathogenic |
| Disease | Alzheimer disease not provided |
| Variation | info |
| Gene | PSEN1 |
| CLNDBN | Alzheimer disease, type 3 not provided |
| Reversed | 0 |
| HGVS | NC_000014.8:g.73640295A>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019765.28, RCV000084300.1, |
