rs145518263
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;T) | 4 | rare mutation increasing risk for late-onset Alzheimer's disease |
| (T;T) | 0 | common |
| Make rs145518263(C;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 15 |
| Position | 58665141 |
| Gene | ADAM10 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs145518263 |
| dbSNP (classic) | rs145518263 |
| ClinGen | rs145518263 |
| ebi | rs145518263 |
| HLI | rs145518263 |
| Exac | rs145518263 |
| Gnomad | rs145518263 |
| Varsome | rs145518263 |
| LitVar | rs145518263 |
| Map | rs145518263 |
| PheGenI | rs145518263 |
| Biobank | rs145518263 |
| 1000 genomes | rs145518263 |
| hgdp | rs145518263 |
| ensembl | rs145518263 |
| geneview | rs145518263 |
| scholar | rs145518263 |
| rs145518263 | |
| pharmgkb | rs145518263 |
| gwascentral | rs145518263 |
| openSNP | rs145518263 |
| 23andMe | rs145518263 |
| SNPshot | rs145518263 |
| SNPdbe | rs145518263 |
| MSV3d | rs145518263 |
| GWAS Ctlg | rs145518263 |
| Max Magnitude | 4 |
rs145518263, also known as R181G or Arg181Gly, is a SNP in the ADAM metallopeptidase domain 10 ADAM10 gene. The common allele is rs145518263(T), encoding the Arg.
[PMID 19608551
] The rs145518263(C) allele was found in 11 of 16 individuals affected by Alzheimer's disease (average onset age 69.5 years) from seven late-onset AD families. This mutation was also found in at least one unaffected subject, implying incomplete penetrance.
This SNP is referred to as i6006817 by 23andMe.
| ClinVar | |
|---|---|
| Risk | rs145518263(C;C) |
| Alt | rs145518263(C;C) |
| Reference | Rs145518263(T;T) |
| Significance | Other |
| Disease | Alzheimer disease 18 |
| Variation | info |
| Gene | ADAM10 |
| CLNDBN | Alzheimer disease 18 |
| Reversed | 0 |
| HGVS | NC_000015.9:g.58957340T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000077798.3, |
