rs63751037
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 9 | early-onset Alzheimers disease |
| Make rs63751037(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 73173642 |
| Gene | PSEN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs63751037 |
| dbSNP (classic) | rs63751037 |
| ClinGen | rs63751037 |
| ebi | rs63751037 |
| HLI | rs63751037 |
| Exac | rs63751037 |
| Gnomad | rs63751037 |
| Varsome | rs63751037 |
| LitVar | rs63751037 |
| Map | rs63751037 |
| PheGenI | rs63751037 |
| Biobank | rs63751037 |
| 1000 genomes | rs63751037 |
| hgdp | rs63751037 |
| ensembl | rs63751037 |
| geneview | rs63751037 |
| scholar | rs63751037 |
| rs63751037 | |
| pharmgkb | rs63751037 |
| gwascentral | rs63751037 |
| openSNP | rs63751037 |
| 23andMe | rs63751037 |
| SNPshot | rs63751037 |
| SNPdbe | rs63751037 |
| MSV3d | rs63751037 |
| GWAS Ctlg | rs63751037 |
| Max Magnitude | 9 |
rs63751037, also known as M139V or Met139Val, is a SNP in the presenilin 1 PSEN1 gene.
The rare rs63751037(G) allele is considered causative for early-onset Alzheimer's disease.[PMID 7550356]
| ClinVar | |
|---|---|
| Risk | rs63751037(G;G) |
| Alt | rs63751037(G;G) |
| Reference | Rs63751037(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.73640350A>G |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019756.28, RCV000084304.1, |
[PMID 7550356] The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Alzheimer's Disease Collaborative Group.
[PMID 12810495] Presenilin 1 mutation in an african american family presenting with atypical Alzheimer dementia.
