rs397514693
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 0 | common in clinvar |
| (A;G) | 4 | Morning Lark (very early riser) |
| Make rs397514693(G;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 82265736 |
| Gene | CSNK1D |
| is a | snp |
| is | mentioned by |
| dbSNP | rs397514693 |
| dbSNP (classic) | rs397514693 |
| ClinGen | rs397514693 |
| ebi | rs397514693 |
| HLI | rs397514693 |
| Exac | rs397514693 |
| Gnomad | rs397514693 |
| Varsome | rs397514693 |
| LitVar | rs397514693 |
| Map | rs397514693 |
| PheGenI | rs397514693 |
| Biobank | rs397514693 |
| 1000 genomes | rs397514693 |
| hgdp | rs397514693 |
| ensembl | rs397514693 |
| geneview | rs397514693 |
| scholar | rs397514693 |
| rs397514693 | |
| pharmgkb | rs397514693 |
| gwascentral | rs397514693 |
| openSNP | rs397514693 |
| 23andMe | rs397514693 |
| SNPshot | rs397514693 |
| SNPdbe | rs397514693 |
| MSV3d | rs397514693 |
| GWAS Ctlg | rs397514693 |
| Max Magnitude | 4 |
rs397514693, also known as His46Arg or H46R, is a SNP in the casein kinase 1, delta CSNK1D gene.
Heterozygotes for rs397514693 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 23636092
]
There is also a report that finds a complex connection to migraine in association with this SNP, requiring further study.[PMID 23636092]
| ClinVar | |
|---|---|
| Risk | rs397514693(G;G) |
| Alt | rs397514693(G;G) |
| Reference | Rs397514693(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.80223612T>C |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000043507.5, |
