rs121917808
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 8 | Alzheimer's disease, early-onset, as reported |
| (C;C) | 0 | common in clinvar |
| Make rs121917808(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 73219192 |
| Gene | PSEN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121917808 |
| dbSNP (classic) | rs121917808 |
| ClinGen | rs121917808 |
| ebi | rs121917808 |
| HLI | rs121917808 |
| Exac | rs121917808 |
| Gnomad | rs121917808 |
| Varsome | rs121917808 |
| LitVar | rs121917808 |
| Map | rs121917808 |
| PheGenI | rs121917808 |
| Biobank | rs121917808 |
| 1000 genomes | rs121917808 |
| hgdp | rs121917808 |
| ensembl | rs121917808 |
| geneview | rs121917808 |
| scholar | rs121917808 |
| rs121917808 | |
| pharmgkb | rs121917808 |
| gwascentral | rs121917808 |
| openSNP | rs121917808 |
| 23andMe | rs121917808 |
| SNPshot | rs121917808 |
| SNPdbe | rs121917808 |
| MSV3d | rs121917808 |
| GWAS Ctlg | rs121917808 |
| Merged from | Rs28930977 |
| Max Magnitude | 8 |
PSEN1 mutation, c.1307C>A, p.Pro436Gln, P436Q
Listed in ClinVar, OMIM and AlzForum as pathogenic for early-onset Alzheimer's disease. Note that the clinical symptoms are reported to potentially include spastic spastic paraparesis (paraplegia).
| ClinVar | |
|---|---|
| Risk | rs121917808(A;A) |
| Alt | rs121917808(A;A) |
| Reference | Rs121917808(C;C) |
| 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.73685900C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019780.28, RCV000084580.1, |
