rs6759
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs6759(C;T) |
| Make rs6759(T;T) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 226882036 |
| Gene | PSEN2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs6759 |
| dbSNP (classic) | rs6759 |
| ClinGen | rs6759 |
| ebi | rs6759 |
| HLI | rs6759 |
| Exac | rs6759 |
| Gnomad | rs6759 |
| Varsome | rs6759 |
| LitVar | rs6759 |
| Map | rs6759 |
| PheGenI | rs6759 |
| Biobank | rs6759 |
| 1000 genomes | rs6759 |
| hgdp | rs6759 |
| ensembl | rs6759 |
| geneview | rs6759 |
| scholar | rs6759 |
| rs6759 | |
| pharmgkb | rs6759 |
| gwascentral | rs6759 |
| openSNP | rs6759 |
| 23andMe | rs6759 |
| SNPshot | rs6759 |
| SNPdbe | rs6759 |
| MSV3d | rs6759 |
| GWAS Ctlg | rs6759 |
| Max Magnitude | 0 |
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
A SNP in the presenilin gene PSEN2.
| ClinVar | |
|---|---|
| Risk | rs6759(T;T) |
| Alt | rs6759(T;T) |
| Reference | Rs6759(C;C) |
| Significance | Probable-non-pathogenic |
| Disease | not specified Early-Onset Familial Alzheimer Disease Dilated Cardiomyopathy |
| Variation | info |
| Gene | PSEN2 |
| CLNDBN | not specified Early-Onset Familial Alzheimer Disease Dilated Cardiomyopathy, Dominant |
| Reversed | 0 |
| HGVS | NC_000001.10:g.227069737C>T |
| CLNSRC | |
| CLNACC | RCV000244764.1, RCV000342061.1, RCV000378064.1, |
