rs1295645
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs1295645(C;T) |
| Make rs1295645(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 226871336 |
| Gene | LOC105373119, PSEN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1295645 |
| dbSNP (classic) | rs1295645 |
| ClinGen | rs1295645 |
| ebi | rs1295645 |
| HLI | rs1295645 |
| Exac | rs1295645 |
| Gnomad | rs1295645 |
| Varsome | rs1295645 |
| LitVar | rs1295645 |
| Map | rs1295645 |
| PheGenI | rs1295645 |
| Biobank | rs1295645 |
| 1000 genomes | rs1295645 |
| hgdp | rs1295645 |
| ensembl | rs1295645 |
| geneview | rs1295645 |
| scholar | rs1295645 |
| rs1295645 | |
| pharmgkb | rs1295645 |
| gwascentral | rs1295645 |
| openSNP | rs1295645 |
| 23andMe | rs1295645 |
| SNPshot | rs1295645 |
| SNPdbe | rs1295645 |
| MSV3d | rs1295645 |
| GWAS Ctlg | rs1295645 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
A SNP in the presenilin gene PSEN2.
| ClinVar | |
|---|---|
| Risk | rs1295645(T;T) |
| Alt | rs1295645(T;T) |
| Reference | Rs1295645(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | Early-Onset Familial Alzheimer Disease Dilated Cardiomyopathy |
| Variation | info |
| Gene | PSEN2 |
| CLNDBN | Early-Onset Familial Alzheimer Disease Dilated Cardiomyopathy, Dominant |
| Reversed | 0 |
| HGVS | NC_000001.10:g.227059037C>T |
| CLNSRC | |
| CLNACC | RCV000309678.1, RCV000364413.1, |
