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rs184039278

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 3.33 Delayed sleep phase possible; tendency to be a night owl?
(G;T) 3.33 Delayed sleep phase possible; tendency to be a night owl?
(T;T) 0 common/normal
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position106992962
GeneCRY1
is asnp
is mentioned by
dbSNPrs184039278
dbSNP (classic)rs184039278
ClinGenrs184039278
ebirs184039278
HLIrs184039278
Exacrs184039278
Gnomadrs184039278
Varsomers184039278
LitVarrs184039278
Maprs184039278
PheGenIrs184039278
Biobankrs184039278
1000 genomesrs184039278
hgdprs184039278
ensemblrs184039278
geneviewrs184039278
scholarrs184039278
googlers184039278
pharmgkbrs184039278
gwascentralrs184039278
openSNPrs184039278
23andMers184039278
SNPshotrs184039278
SNPdbers184039278
MSV3drs184039278
GWAS Ctlgrs184039278
Max Magnitude3.33

rs184039278, also known as c.1657+3A>C, is a variant in the CRY1 gene on chromosome 12. Around 1 in 75 Caucasians carry the minor allele of this SNP.

Acting in a dominant manner, the rs184039278(G) allele (as oriented in dbSNP) was observed in individuals who had delayed sleep phase disorder (DSPD), characterized by staying up later (i.e. being night owls). Although this initial report is based on less than 10 families, all of whom are Turkish, the correlation observed for the ~70 individuals studied (8 homozygous carriers, 31 heterozygous carriers, 31 non-carriers) was close to 100%, suggesting this variant is of high penetrance. [PMID 28388406OA-icon.png]

Note that since the reported number of "night owls" is larger than 1 in 75, even if this variant turns out to be a cause of staying up late at night (and fragmented sleep patterns and related sleep disorder), there are going to be many night owls who do not carry the variant allele of this SNP and who have other causes (genetic or otherwise) for their sleep habits.

ClinVar
Risk Rs184039278(G;G)
Alt Rs184039278(G;G)
Reference Rs184039278(T;T)
Significance Other
Disease Sleep-wake schedule disorder
Variation info
Gene CRY1
CLNDBN Sleep-wake schedule disorder, delayed phase type
Reversed 0
HGVS NC_000012.11:g.107386740T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000490555.1,