rs104894561
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 4 | Morning Lark (very early riser) |
| Make rs104894561(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 82265743 |
| Gene | CSNK1D |
| is a | snp |
| is | mentioned by |
| dbSNP | rs104894561 |
| dbSNP (classic) | rs104894561 |
| ClinGen | rs104894561 |
| ebi | rs104894561 |
| HLI | rs104894561 |
| Exac | rs104894561 |
| Gnomad | rs104894561 |
| Varsome | rs104894561 |
| LitVar | rs104894561 |
| Map | rs104894561 |
| PheGenI | rs104894561 |
| Biobank | rs104894561 |
| 1000 genomes | rs104894561 |
| hgdp | rs104894561 |
| ensembl | rs104894561 |
| geneview | rs104894561 |
| scholar | rs104894561 |
| rs104894561 | |
| pharmgkb | rs104894561 |
| gwascentral | rs104894561 |
| openSNP | rs104894561 |
| 23andMe | rs104894561 |
| SNPshot | rs104894561 |
| SNPdbe | rs104894561 |
| MSV3d | rs104894561 |
| GWAS Ctlg | rs104894561 |
| Max Magnitude | 4 |
rs104894561, also known as Thr4Ala or T44A, is a SNP in the casein kinase 1, delta CSNK1D gene.
Heterozygotes for rs104894561 have been reported to have a sleep disorder, Familial Advanced Sleep Phase syndrome 2 (FASPS2), and it is therefore considered to be inherited as an autosomal dominant trait. The condition is marked by a ~4 hour shift towards earlier bedtime and rising time compared to most people.[PMID 15800623]
| ClinVar | |
|---|---|
| Risk | rs104894561(G;G) |
| Alt | rs104894561(G;G) |
| Reference | Rs104894561(A;A) |
| Significance | Pathogenic |
| Disease | Advanced sleep phase syndrome |
| Variation | info |
| Gene | CSNK1D |
| CLNDBN | Advanced sleep phase syndrome, familial, 2 |
| Reversed | 1 |
| HGVS | NC_000017.10:g.80223619T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009280.4, |
