rs755127868
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Make rs755127868(-;-) |
| Make rs755127868(-;AG) |
| Make rs755127868(AG;AG) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 16 |
| Position | 30980737 |
| Gene | SETD1A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs755127868 |
| dbSNP (classic) | rs755127868 |
| ClinGen | rs755127868 |
| ebi | rs755127868 |
| HLI | rs755127868 |
| Exac | rs755127868 |
| Gnomad | rs755127868 |
| Varsome | rs755127868 |
| LitVar | rs755127868 |
| Map | rs755127868 |
| PheGenI | rs755127868 |
| Biobank | rs755127868 |
| 1000 genomes | rs755127868 |
| hgdp | rs755127868 |
| ensembl | rs755127868 |
| geneview | rs755127868 |
| scholar | rs755127868 |
| rs755127868 | |
| pharmgkb | rs755127868 |
| gwascentral | rs755127868 |
| openSNP | rs755127868 |
| 23andMe | rs755127868 |
| SNPshot | rs755127868 |
| SNPdbe | rs755127868 |
| MSV3d | rs755127868 |
| GWAS Ctlg | rs755127868 |
| Max Magnitude | 0 |
[PMID 26974950
] Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
referred to in the cited paper as 16:30992057_CAG/C and also as c.4582-2delAG>-
| ClinVar | |
|---|---|
| Risk | rs755127868(-;-) |
| Alt | rs755127868(-;-) |
| Reference | rs755127868(AG;AG) |
| Significance | Unknown |
| Disease | not provided |
| Variation | info |
| Gene | SETD1A |
| CLNDBN | not provided |
| Reversed | 0 |
| HGVS | NC_000016.9:g.30992058_30992059delAG |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000477685.1, |
