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rs121908635

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 4 Morning Lark (people waking up very early)
Make rs121908635(G;G)
ReferenceGRCh38 38.1/141
Chromosome2
Position238257003
GenePER2
is asnp
is mentioned by
dbSNPrs121908635
ebirs121908635
HLIrs121908635
Exacrs121908635
Varsomers121908635
Maprs121908635
PheGenIrs121908635
hapmaprs121908635
1000 genomesrs121908635
hgdprs121908635
ensemblrs121908635
gopubmedrs121908635
geneviewrs121908635
scholarrs121908635
googlers121908635
pharmgkbrs121908635
gwascentralrs121908635
openSNPrs121908635
23andMers121908635
23andMe allrs121908635
SNP Nexus

SNPshotrs121908635
SNPdbers121908635
MSV3drs121908635
GWAS Ctlgrs121908635
Max Magnitude4
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.

OMIM603426
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121908635(G;G)
Alt rs121908635(G;G)
Reference rs121908635(A;A)
Significance Pathogenic
Disease Advanced sleep phase syndrome
Variation info
Gene PER2
CLNDBN Advanced sleep phase syndrome, familial
Reversed 1
HGVS NC_000002.11:g.239165644T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000006717.3,