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rs121912617

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 normal. Need a full 8h of sleep
(C;G) 4 Short Sleeper
(G;G) 5 Short sleeper
ReferenceGRCh38 38.1/141
Chromosome12
Position26122364
GeneBHLHE41
is asnp
is mentioned by
dbSNPrs121912617
ebirs121912617
HLIrs121912617
Exacrs121912617
Varsomers121912617
Maprs121912617
PheGenIrs121912617
hapmaprs121912617
1000 genomesrs121912617
hgdprs121912617
ensemblrs121912617
gopubmedrs121912617
geneviewrs121912617
scholarrs121912617
googlers121912617
pharmgkbrs121912617
gwascentralrs121912617
openSNPrs121912617
23andMers121912617
23andMe allrs121912617
SNP Nexus

SNPshotrs121912617
SNPdbers121912617
MSV3drs121912617
GWAS Ctlgrs121912617
Max Magnitude5
rs121912617, also known as Pro384Arg or P384R, is a SNP in the basic helix-loop-helix family, member e41 BHLHE41 gene. Note that some publications and OMIM refer to this as Pro385 (rather than 384).

Individuals heterozygous for rs121912617 are known as Familial Natural Short Sleepers (FNSS), and they sleep 6–6.5 hours per night (∼2 hours less than controls) on average, without reporting any sense of sleep deprivation.[PMID 19679812OA-icon.png] This is classified as a sleep disorder, although it does not appear to have any known negative medical consequence.

The correlation between P384R and FNSS was first reported in 2009. In 2014, an independent group studying a (relatively small) group of people also saw the correlation between P384 and FNSS, while also finding another similiar variant in the BHLHE41 gene, Y362H (c.1086C>T). The Y362H variant does not have a dbSNP SNP designation at this time. [PMID 25083013OA-icon.png]

OMIM606200
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121912617(A,G;A,G)
Alt rs121912617(A,G;A,G)
Reference rs121912617(C;C)
Significance Other
Disease Short-sleeper
Variation info
Gene BHLHE41
CLNDBN Short-sleeper
Reversed 1
HGVS NC_000012.11:g.26275297G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000004788.3,