rs121908635
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 4 | Morning Lark (people waking up very early) |
| Make rs121908635(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 2 |
| Position | 238257003 |
| Gene | PER2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908635 |
| dbSNP (classic) | rs121908635 |
| ClinGen | rs121908635 |
| ebi | rs121908635 |
| HLI | rs121908635 |
| Exac | rs121908635 |
| Gnomad | rs121908635 |
| Varsome | rs121908635 |
| LitVar | rs121908635 |
| Map | rs121908635 |
| PheGenI | rs121908635 |
| Biobank | rs121908635 |
| 1000 genomes | rs121908635 |
| hgdp | rs121908635 |
| ensembl | rs121908635 |
| geneview | rs121908635 |
| scholar | rs121908635 |
| rs121908635 | |
| pharmgkb | rs121908635 |
| gwascentral | rs121908635 |
| openSNP | rs121908635 |
| 23andMe | rs121908635 |
| SNPshot | rs121908635 |
| SNPdbe | rs121908635 |
| MSV3d | rs121908635 |
| GWAS Ctlg | rs121908635 |
| Max Magnitude | 4 |
rs121908635, also known as Ser662Gly or S662G, is a SNP in the period circadian clock 2 PER2 gene.
This SNP is associated with the sleep disorder known as Familial Advanced Sleep Phase Syndrome (FASPS), a highly penetrant autosomal dominant trait.[PMID 11232563],[PMID 10470086]
Affected individuals are extreme "morning larks"; they show advanced sleep-phase syndrome, awakening and going to bed exceptionally early (by ~4 hours) to maintain a normal quantity and quality of sleep.
| ClinVar | |
|---|---|
| Risk | rs121908635(G;G) |
| Alt | rs121908635(G;G) |
| Reference | Rs121908635(A;A) |
| Significance | Pathogenic |
| Disease | Familial advanced sleep phase syndrome 1 |
| Variation | info |
| Gene | PER2 |
| CLNDBN | Familial advanced sleep phase syndrome 1 |
| Reversed | 1 |
| HGVS | NC_000002.11:g.239165644T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006717.3, |
