rs63751106
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;T) | 7 | Alzheimer's disease |
| (C;T) | 7 | Alzheimer's disease |
| (T;T) | 0 | common/normal |
| Make rs63751106(C;C) |
| Reference | GRCh38.p7 38.3/150 |
| Chromosome | 14 |
| Position | 73173643 |
| Gene | PSEN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63751106 |
| dbSNP (classic) | rs63751106 |
| ClinGen | rs63751106 |
| ebi | rs63751106 |
| HLI | rs63751106 |
| Exac | rs63751106 |
| Gnomad | rs63751106 |
| Varsome | rs63751106 |
| LitVar | rs63751106 |
| Map | rs63751106 |
| PheGenI | rs63751106 |
| Biobank | rs63751106 |
| 1000 genomes | rs63751106 |
| hgdp | rs63751106 |
| ensembl | rs63751106 |
| geneview | rs63751106 |
| scholar | rs63751106 |
| rs63751106 | |
| pharmgkb | rs63751106 |
| gwascentral | rs63751106 |
| openSNP | rs63751106 |
| 23andMe | rs63751106 |
| SNPshot | rs63751106 |
| SNPdbe | rs63751106 |
| MSV3d | rs63751106 |
| GWAS Ctlg | rs63751106 |
| Max Magnitude | 7 |
rs63751106, also known as c.416T>A, Met139Lys and M139K, and also c.416T>C, Met139Thr or M139T, is a SNP in the presenilin 1 PSEN1 gene.
Inherited as an autosomal dominant, the rare rs63751106(A) and rs63751106(C) alleles are both considered pathogenic for late-onset Alzheimer's disease in AlzForum.
23andMe name for the T>A version: i5047502
Both are reported in [PMID 28350801
] to be a "definitely" pathogenic mutation.
| ClinVar | |
|---|---|
| Risk | rs63751106(C;C) |
| Alt | rs63751106(C;C) |
| Reference | Rs63751106(T;T) |
| Significance | Untested |
| Disease | not provided |
| Variation | info |
| Gene | PSEN1 |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000014.8:g.73640351T>C |
| CLNSRC | UniProtKB (protein) |
| CLNACC | RCV000084305.1, |
