rs63750590
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 8 | early onset Alzheimers disease |
| Make rs63750590(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 73186860 |
| Gene | PSEN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750590 |
| dbSNP (classic) | rs63750590 |
| ClinGen | rs63750590 |
| ebi | rs63750590 |
| HLI | rs63750590 |
| Exac | rs63750590 |
| Gnomad | rs63750590 |
| Varsome | rs63750590 |
| LitVar | rs63750590 |
| Map | rs63750590 |
| PheGenI | rs63750590 |
| Biobank | rs63750590 |
| 1000 genomes | rs63750590 |
| hgdp | rs63750590 |
| ensembl | rs63750590 |
| geneview | rs63750590 |
| scholar | rs63750590 |
| rs63750590 | |
| pharmgkb | rs63750590 |
| gwascentral | rs63750590 |
| openSNP | rs63750590 |
| 23andMe | rs63750590 |
| SNPshot | rs63750590 |
| SNPdbe | rs63750590 |
| MSV3d | rs63750590 |
| GWAS Ctlg | rs63750590 |
| Max Magnitude | 8 |
rs63750590, also known as H163R or His163Arg, is a SNP in the presenilin 1 PSEN1 gene.
The rare rs63750590(G) allele is considered causative for early-onset Alzheimer's disease.[PMID 7596406]. AlzForum reports that "H163R is a relatively frequent pathogenic mutation with numerous reports in different populations"[1].
Reported in [PMID 28350801
] to be a "definitely" pathogenic mutation.
| ClinVar | |
|---|---|
| Risk | rs63750590(G;G) |
| Alt | rs63750590(G;G) |
| Reference | Rs63750590(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.73653568A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019752.29, RCV000084318.1, |
