rs8383
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | |
| (C;T) | ||
| (T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 226895849 |
| Gene | PSEN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs8383 |
| dbSNP (classic) | rs8383 |
| ClinGen | rs8383 |
| ebi | rs8383 |
| HLI | rs8383 |
| Exac | rs8383 |
| Gnomad | rs8383 |
| Varsome | rs8383 |
| LitVar | rs8383 |
| Map | rs8383 |
| PheGenI | rs8383 |
| Biobank | rs8383 |
| 1000 genomes | rs8383 |
| hgdp | rs8383 |
| ensembl | rs8383 |
| geneview | rs8383 |
| scholar | rs8383 |
| rs8383 | |
| pharmgkb | rs8383 |
| gwascentral | rs8383 |
| openSNP | rs8383 |
| 23andMe | rs8383 |
| SNPshot | rs8383 |
| SNPdbe | rs8383 |
| MSV3d | rs8383 |
| GWAS Ctlg | rs8383 |
| GMAF | 0.489 |
| Max Magnitude | 0 |
[PMID 22580083] Presenilin-2 polymorphisms and risk of sporadic AD: Evidence from a meta-analysis
[PMID 19232479] Does the presenilin 2 gene predispose to schizophrenia?
| ClinVar | |
|---|---|
| Risk | Rs8383(T;T) |
| Alt | Rs8383(T;T) |
| Reference | Rs8383(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Early-Onset Familial Alzheimer Disease Dilated Cardiomyopathy |
| Variation | info |
| Gene | ADCK3 PSEN2 |
| CLNDBN | Early-Onset Familial Alzheimer Disease Dilated Cardiomyopathy, Dominant |
| Reversed | 0 |
| HGVS | NC_000001.10:g.227083550C>T |
| CLNSRC | |
| CLNACC | RCV000331661.1, RCV000386193.1, |
