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rs397514693

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 4 Morning Lark (very early riser)
Make rs397514693(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position82265736
GeneCSNK1D
is asnp
is mentioned by
dbSNPrs397514693
ebirs397514693
HLIrs397514693
Exacrs397514693
Varsomers397514693
Maprs397514693
PheGenIrs397514693
hapmaprs397514693
1000 genomesrs397514693
hgdprs397514693
ensemblrs397514693
gopubmedrs397514693
geneviewrs397514693
scholarrs397514693
googlers397514693
pharmgkbrs397514693
gwascentralrs397514693
openSNPrs397514693
23andMers397514693
23andMe allrs397514693
SNP Nexus

SNPshotrs397514693
SNPdbers397514693
MSV3drs397514693
GWAS Ctlgrs397514693
Max Magnitude4
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 23636092OA-icon.png]

There is also a report that finds a complex connection to migraine in association with this SNP, requiring further study.[PMID 23636092OA-icon.png]

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
CLNACC RCV000043507.5,