rs146539065
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1481318368
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Neuronal expression of familial Parkinson's disease A53T α-synuclein causes early motor impairment, reduced anxiety and potential sleep disturbances in mice.
|
23938351 |
2013 |
rs1481892
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The main positive findings refer to associations between selected polymorphisms and: 1) chronotype with the ARNTL gene (rs11824092 and rs1481892) and the CLOCK (rs1268271) 2) sleep duration with the CLOCK gene (rs3805148) and the TIM gene (rs2291739) 3) daytime dysfunction with the PER3 gene (rs228727, rs228642, rs10864315) 4) subjective sleep quality with the ARNTL gene (rs11824092, rs1982350) 5) sleep disturbances with the ARNTL gene (rs11600996) We also found the significant epistatic interactions between polymorphism of the PER3 gene (rs2640909) & the CLOCK gene (rs11932595) and following sleep quality variables: sleep duration, habitual sleep efficiency and subjective sleep quality.
|
27102916 |
2016 |
rs148881970
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1554317002
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1554389088
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.
|
29100089 |
2017 |
rs1554888939
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1554944271
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.
|
28940898 |
2017 |
rs1555358382
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555462347
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555743003
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Novel splicing mutation in the ASXL3 gene causing Bainbridge-Ropers syndrome.
|
27075689 |
2016 |
rs1555883505
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
|
26795593 |
2016 |
rs1555939456
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1557043622
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.
|
30817854 |
2019 |
rs1562114190
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1562171209
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs156243
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In epistatic interaction analyses, we observed two locus interactions between sleep disturbances (p = 0.007; rs11824092 of ARNTL and rs11932595 of CLOCK) as well as interactions of subdimension in main depression and ARNTL variants (p = 0.0011; rs3789327, rs10766075) and appetite disturbances in depression and ARNTL polymorphism (p = 7 × 10(-4); rs11022778, rs156243).
|
24673294 |
2014 |
rs1564421528
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1567010427
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1800629
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we sought to determine whether a functional genetic variation in a prominent proinflammatory cytokine, tumor necrosis factor-alpha (TNFA-308G>A [rs1800629] promoter polymorphism) was associated with overall ratings of sleep disturbance and fatigue as well as with the trajectories of these symptoms.
|
19419979 |
2009 |
rs1801260
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A single nucleotide polymorphism (SNP) in the 3'-flanking region of CLOCK (3111T/C; rs1801260) has been reported to be associated with sleep disturbances and an increased recurrence rate in patients with bipolar disorder.
|
20600471 |
2010 |
rs1982350
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The main positive findings refer to associations between selected polymorphisms and: 1) chronotype with the ARNTL gene (rs11824092 and rs1481892) and the CLOCK (rs1268271) 2) sleep duration with the CLOCK gene (rs3805148) and the TIM gene (rs2291739) 3) daytime dysfunction with the PER3 gene (rs228727, rs228642, rs10864315) 4) subjective sleep quality with the ARNTL gene (rs11824092, rs1982350) 5) sleep disturbances with the ARNTL gene (rs11600996) We also found the significant epistatic interactions between polymorphism of the PER3 gene (rs2640909) & the CLOCK gene (rs11932595) and following sleep quality variables: sleep duration, habitual sleep efficiency and subjective sleep quality.
|
27102916 |
2016 |
rs200661329
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs2230912
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Genetically engineered mice, with human P2X7R, revealed that heterozygous mice (i.e., they coexpress the disease-associated Gln460Arg variant together with its normal version) have impaired receptor function and showed sleep disturbances.
|
29079688 |
2017 |
rs2291739
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The main positive findings refer to associations between selected polymorphisms and: 1) chronotype with the ARNTL gene (rs11824092 and rs1481892) and the CLOCK (rs1268271) 2) sleep duration with the CLOCK gene (rs3805148) and the TIM gene (rs2291739) 3) daytime dysfunction with the PER3 gene (rs228727, rs228642, rs10864315) 4) subjective sleep quality with the ARNTL gene (rs11824092, rs1982350) 5) sleep disturbances with the ARNTL gene (rs11600996) We also found the significant epistatic interactions between polymorphism of the PER3 gene (rs2640909) & the CLOCK gene (rs11932595) and following sleep quality variables: sleep duration, habitual sleep efficiency and subjective sleep quality.
|
27102916 |
2016 |