rs139315125
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| Make rs139315125(A;G) |
| Make rs139315125(G;G) |
| Reference | GRCh38.p2 38.2/146 |
| Chromosome | 1 |
| Position | 7809900 |
| Gene | PER3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs139315125 |
| dbSNP (classic) | rs139315125 |
| ClinGen | rs139315125 |
| ebi | rs139315125 |
| HLI | rs139315125 |
| Exac | rs139315125 |
| Gnomad | rs139315125 |
| Varsome | rs139315125 |
| LitVar | rs139315125 |
| Map | rs139315125 |
| PheGenI | rs139315125 |
| Biobank | rs139315125 |
| 1000 genomes | rs139315125 |
| hgdp | rs139315125 |
| ensembl | rs139315125 |
| geneview | rs139315125 |
| scholar | rs139315125 |
| rs139315125 | |
| pharmgkb | rs139315125 |
| gwascentral | rs139315125 |
| openSNP | rs139315125 |
| 23andMe | rs139315125 |
| SNPshot | rs139315125 |
| SNPdbe | rs139315125 |
| MSV3d | rs139315125 |
| GWAS Ctlg | rs139315125 |
| Max Magnitude | 0 |
[PMID 26903630
] A PERIOD3 variant causes a circadian phenotype and is associated with a seasonal mood trait: Based on transgenic mouse models and one family, the minor allele of rs139315125 was found in individuals with familial advanced sleep phase sleep disorder accompanied by higher Beck Depression Inventory and a tendency to seasonal affective disorder. Related blog post here.
| ClinVar | |
|---|---|
| Risk | rs139315125(G;G) |
| Alt | rs139315125(G;G) |
| Reference | Rs139315125(A;A) |
| Significance | Pathogenic |
| Disease | Advanced sleep phase syndrome |
| Variation | info |
| Gene | PER3 |
| CLNDBN | Advanced sleep phase syndrome, familial, 3 |
| Reversed | 0 |
| HGVS | NC_000001.10:g.7869960A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000210468.2, |
