rs869312831
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3.5 | Possible association with schizophrenia |
| Make rs869312831(T;T) |
| Reference | GRCh38.p2 38.2/147 |
| Chromosome | 16 |
| Position | 30966090 |
| Gene | SETD1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs869312831 |
| dbSNP (classic) | rs869312831 |
| ClinGen | rs869312831 |
| ebi | rs869312831 |
| HLI | rs869312831 |
| Exac | rs869312831 |
| Gnomad | rs869312831 |
| Varsome | rs869312831 |
| LitVar | rs869312831 |
| Map | rs869312831 |
| PheGenI | rs869312831 |
| Biobank | rs869312831 |
| 1000 genomes | rs869312831 |
| hgdp | rs869312831 |
| ensembl | rs869312831 |
| geneview | rs869312831 |
| scholar | rs869312831 |
| rs869312831 | |
| pharmgkb | rs869312831 |
| gwascentral | rs869312831 |
| openSNP | rs869312831 |
| 23andMe | rs869312831 |
| SNPshot | rs869312831 |
| SNPdbe | rs869312831 |
| MSV3d | rs869312831 |
| GWAS Ctlg | rs869312831 |
| Max Magnitude | 3.5 |
also known as c.2209C>T and p.Gln737Ter
[PMID 26974950
] Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
| ClinVar | |
|---|---|
| Risk | rs869312831(T;T) |
| Alt | rs869312831(T;T) |
| Reference | Rs869312831(C;C) |
| Significance | Pathogenic |
| Disease | Schizophrenia |
| Variation | info |
| Gene | SETD1A |
| CLNDBN | Schizophrenia |
| Reversed | 0 |
| HGVS | NC_000016.9:g.30977411C>T |
| CLNSRC | |
| CLNACC | RCV000210263.1, |
