rs63750577
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 9 | early-onset Alzheimers disease |
| Make rs63750577(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 73186881 |
| Gene | PSEN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750577 |
| dbSNP (classic) | rs63750577 |
| ClinGen | rs63750577 |
| ebi | rs63750577 |
| HLI | rs63750577 |
| Exac | rs63750577 |
| Gnomad | rs63750577 |
| Varsome | rs63750577 |
| LitVar | rs63750577 |
| Map | rs63750577 |
| PheGenI | rs63750577 |
| Biobank | rs63750577 |
| 1000 genomes | rs63750577 |
| hgdp | rs63750577 |
| ensembl | rs63750577 |
| geneview | rs63750577 |
| scholar | rs63750577 |
| rs63750577 | |
| pharmgkb | rs63750577 |
| gwascentral | rs63750577 |
| openSNP | rs63750577 |
| 23andMe | rs63750577 |
| SNPshot | rs63750577 |
| SNPdbe | rs63750577 |
| MSV3d | rs63750577 |
| GWAS Ctlg | rs63750577 |
| Max Magnitude | 9 |
rs63750577, also known as S170F or Ser170Phe, is a SNP in the presenilin 1 PSEN1 gene.
The rare rs63750577(T) allele is considered causative for early-onset Alzheimer's disease.[PMID 16344340]
| ClinVar | |
|---|---|
| Risk | rs63750577(T;T) |
| Alt | rs63750577(T;T) |
| Reference | Rs63750577(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.73653589C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000019788.28, RCV000084326.1, |
[PMID 16344340] Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life.
[PMID 17502474] Association of a presenilin 1 S170F mutation with a novel Alzheimer disease molecular phenotype.
