rs2249057
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| Make rs2249057(A;A) |
| Make rs2249057(A;C) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 21 |
| Position | 46353189 |
| Gene | PCNT |
| is a | snp |
| is | mentioned by |
| dbSNP | rs2249057 |
| dbSNP (classic) | rs2249057 |
| ClinGen | rs2249057 |
| ebi | rs2249057 |
| HLI | rs2249057 |
| Exac | rs2249057 |
| Gnomad | rs2249057 |
| Varsome | rs2249057 |
| LitVar | rs2249057 |
| Map | rs2249057 |
| PheGenI | rs2249057 |
| Biobank | rs2249057 |
| 1000 genomes | rs2249057 |
| hgdp | rs2249057 |
| ensembl | rs2249057 |
| geneview | rs2249057 |
| scholar | rs2249057 |
| rs2249057 | |
| pharmgkb | rs2249057 |
| gwascentral | rs2249057 |
| openSNP | rs2249057 |
| 23andMe | rs2249057 |
| SNPshot | rs2249057 |
| SNPdbe | rs2249057 |
| MSV3d | rs2249057 |
| GWAS Ctlg | rs2249057 |
| GMAF | 0.3099 |
| Max Magnitude | 0 |
| ? | (A;A) (A;C) (C;C) | 28 |
|---|---|---|
|
| ||
[PMID 19191256] Association studies and gene expression analyses of the DISC1-interacting molecules, pericentrin 2 (PCNT2) and DISC1-binding zinc finger protein (DBZ), with schizophrenia and with bipolar disorder
[PMID 19448849
] Positive association of the pericentrin (PCNT) gene with major depressive disorder in the Japanese population.
[PMID 20403199] High-throughput analysis of candidate imprinted genes and allele-specific gene expression in the human term placenta.
| ClinVar | |
|---|---|
| Risk | rs2249057(A;A) rs2249057(T;T) |
| Alt | rs2249057(A;A) rs2249057(T;T) |
| Reference | Rs2249057(C;C) |
| Significance | Non-pathogenic |
| Disease | not specified Microcephalic Osteodysplastic Primordial Dwarfism |
| Variation | info |
| Gene | PCNT |
| CLNDBN | not specified Microcephalic Osteodysplastic Primordial Dwarfism |
| Reversed | 0 |
| HGVS | NC_000021.8:g.47773103C>A |
| CLNSRC | ClinVar University of Chicago |
| CLNACC | RCV000147090.1, RCV000402281.1, |
