rs63750666
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 8 | early-onset Alzheimer's disease; penetrance unclear |
| Make rs63750666(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 226895521 |
| Gene | PSEN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63750666 |
| dbSNP (classic) | rs63750666 |
| ClinGen | rs63750666 |
| ebi | rs63750666 |
| HLI | rs63750666 |
| Exac | rs63750666 |
| Gnomad | rs63750666 |
| Varsome | rs63750666 |
| LitVar | rs63750666 |
| Map | rs63750666 |
| PheGenI | rs63750666 |
| Biobank | rs63750666 |
| 1000 genomes | rs63750666 |
| hgdp | rs63750666 |
| ensembl | rs63750666 |
| geneview | rs63750666 |
| scholar | rs63750666 |
| rs63750666 | |
| pharmgkb | rs63750666 |
| gwascentral | rs63750666 |
| openSNP | rs63750666 |
| 23andMe | rs63750666 |
| SNPshot | rs63750666 |
| SNPdbe | rs63750666 |
| MSV3d | rs63750666 |
| GWAS Ctlg | rs63750666 |
| Max Magnitude | 8 |
rs63750666, also known as c.1289C>T, T430M or Thr430Met, is a SNP in the presenilin 2 PSEN2 gene.
Acting as an autosomal dominant, the rare rs63750666(T) allele has been suggested to lead to early-onset Alzheimer's disease. However, a sibling who shared this mutation with an Alzheimer's patient did not show signs of early-onset disease, so this mutation may have reduced penetrance.[PMID 12925374]
| ClinVar | |
|---|---|
| Risk | rs63750666(T;T) |
| Alt | rs63750666(T;T) |
| Reference | Rs63750666(C;C) |
| Significance | Pathogenic |
| Disease | Alzheimer disease not provided |
| Variation | info |
| Gene | ADCK3 PSEN2 |
| CLNDBN | Alzheimer disease, type 4 not provided |
| Reversed | 0 |
| HGVS | NC_000001.10:g.227083222C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000009396.4, RCV000084268.1, |
