|
rs10462020
|
PER3
V647G
|
Missense variant in circadian clock gene PER3 associated with morning chronot...
|
Hormones & Sleep
|
|
Moderate
|
|
rs10038916
|
GRIA1
|
Intronic variant in the AMPA glutamate receptor gene GRIA1 associated with re...
|
Neurology & Cognition
|
|
Strong
|
|
rs1064608
|
MTCH2
Pro290Ala
|
Missense variant in MTCH2 that reduces mitochondrial metabolic efficiency, in...
|
Hormones & Sleep
|
|
Moderate
|
|
rs10766383
|
NUCB2
|
Intronic NUCB2 variant associated with type 2 diabetes risk in females and or...
|
Hormones & Sleep
|
|
Moderate
|
|
rs10830963
|
MTNR1B
Intron C>G
|
Melatonin receptor variant that extends nighttime melatonin signaling in panc...
|
Hormones & Sleep
|
|
Established
|
|
rs10947690
|
MDGA1
Leu61Pro
|
Missense variant in the inhibitory synapse regulator MDGA1 that impairs neuro...
|
Hormones & Sleep
|
|
Strong
|
|
rs11071559
|
RORA
|
Intronic variant in the circadian clock regulator RORA; the T allele is prote...
|
Allergy & Atopic Disease
|
|
Moderate
|
|
rs1144566
|
RGS16
RGS16 H137R
|
Missense variant in RGS16 that substitutes histidine for arginine at position...
|
Hormones & Sleep
|
|
Moderate
|
|
rs1154155
|
TRA
|
T-cell receptor alpha locus variant associated with narcolepsy susceptibility...
|
Hormones & Sleep
|
|
Strong
|
|
rs10839553
|
CCKBR
|
Intronic variant near the cholecystokinin B receptor gene associated with res...
|
Neurology & Cognition
|
|
Strong
|
|
rs11545787
|
RASD1
RASD1 photic entrainment variant
|
3' UTR variant in RASD1 (Dexras1), a GTPase that gates light signals to the c...
|
Hormones & Sleep
|
|
Strong
|
|
rs10895816
|
GRIA4
|
Intronic variant in the AMPA glutamate receptor gene GRIA4 associated with re...
|
Neurology & Cognition
|
|
Strong
|
|
rs11605924
|
CRY2
Intron Variant
|
Circadian clock gene variant affecting fasting glucose, hepatic lipid metabol...
|
Hormones & Sleep
|
|
Strong
|
|
rs12736689
|
RGS16
|
Intronic/regulatory variant near RGS16 that is the strongest single-locus mor...
|
Hormones & Sleep
|
|
Strong
|
|
rs1330
|
NUCB2
|
Intronic NUCB2 variant associated with obesity risk in males, type 2 diabetes...
|
Hormones & Sleep
|
|
Moderate
|
|
rs117896735
|
INPP5F
|
Intronic variant in the INPP5F/BAG3 locus associated with increased risk of R...
|
Neurology & Cognition
|
|
Strong
|
|
rs1369481
|
NPAS2
|
Intronic variant in the brain-specific circadian transcription factor NPAS2; ...
|
Hormones & Sleep
|
|
Emerging
|
|
rs139315125
|
PER3
H417R
|
Rare PER3 missense variant that co-occurs on the FASPS3 haplotype with Pro415...
|
Hormones & Sleep
|
|
Strong
|
|
rs57875989
|
PER3
PER3 VNTR (4/5 repeat)
|
Coding VNTR in exon 18 of the circadian clock gene PER3; 4-repeat vs 5-repeat...
|
Arrhythmia & Heart Rhythm
|
|
Moderate
|
|
rs150812083
|
PER3
PER3 Pro415Ala (FASPS3)
|
Rare PER3 missense variant that destabilizes the circadian clock protein, sho...
|
Hormones & Sleep
|
|
Strong
|
|
rs1554483
|
CLOCK
|
Intronic CLOCK variant whose G allele, in a haplotype with rs4864548 A, confe...
|
Hormones & Sleep
|
|
Moderate
|
|
rs17493811
|
AGER
|
Tag SNP in the AGER 3′ downstream region associated with increased type 1 dia...
|
Hormones & Sleep
|
|
Moderate
|
|
rs17679445
|
PNPO
Arg116Gln
|
Missense variant in pyridoxamine 5'-phosphate oxidase that reduces the enzyme...
|
Hormones & Sleep
|
|
Moderate
|
|
rs2271933
|
HCRTR1
Ile408Val
|
Missense variant in the orexin/hypocretin receptor 1 that alters G-protein si...
|
Mood & Behavior
|
|
Moderate
|
|
rs12693542
|
SLC40A1
|
Regulatory variant upstream of ferroportin (the sole cellular iron exporter) ...
|
Neurology & Cognition
|
|
Strong
|
|
rs12752133
|
GBA
|
Intronic GBA variant associated with REM sleep behavior disorder via lysosoma...
|
Neurology & Cognition
|
|
Strong
|
|
rs1800624
|
AGER
-374T/A
|
Promoter variant in the AGER gene that increases RAGE transcription approxima...
|
Hormones & Sleep
|
|
Moderate
|
|
rs1801260
|
CLOCK
3111T>C (3'UTR)
|
Core circadian clock transcription factor variant affecting mRNA stability, a...
|
Hormones & Sleep
|
|
Moderate
|
|
rs184039278
|
CRY1
CRY1Δ11
|
Splice-site variant in the circadian clock gene CRY1 that causes exon 11 skip...
|
Hormones & Sleep
|
|
Strong
|
|
rs1991517
|
TSHR
Asp727Glu
|
Affects TSH receptor sensitivity and thyroid hormone regulation; influences T...
|
Hormones & Sleep
|
|
Strong
|
|
rs1562444
|
MTNR1B
MTNR1B 3'UTR Melatonin Signaling Variant
|
Regulatory 3'UTR variant in the melatonin receptor 1B gene that affects MTNR1...
|
Blood Sugar & Diabetes
|
|
Moderate
|
|
rs2050122
|
HTR6
|
Regulatory variant near the HTR6 serotonin 6 receptor gene associated with ch...
|
Hormones & Sleep
|
|
Moderate
|
|
rs2066853
|
AHR
Arg554Lys
|
Aryl hydrocarbon receptor variant in the transactivation domain that alters A...
|
Hormones & Sleep
|
|
Moderate
|
|
rs2070600
|
AGER
Gly82Ser
|
Missense variant in the AGER pattern-recognition receptor that reduces solubl...
|
Hormones & Sleep
|
|
Strong
|
|
rs228697
|
PER3
Pro864Ala
|
Core clock gene variant that shifts circadian period length and influences mo...
|
Hormones & Sleep
|
|
Moderate
|
|
rs2287161
|
CRY1
3' Downstream G>C
|
Cryptochrome 1 circadian gene variant influencing glucose metabolism, sleep t...
|
Hormones & Sleep
|
|
Strong
|
|
rs2291725
|
GIP
Ser103Gly
|
Missense variant in the GIP incretin hormone that changes its bioactivity and...
|
Hormones & Sleep
|
|
Moderate
|
|
rs2304672
|
PER2
5'UTR C111G
|
Regulatory variant in a core clock gene that influences circadian timing, sle...
|
Hormones & Sleep
|
|
Moderate
|
|
rs2325751
|
PNPO
|
Regulatory variant 2 kb upstream of PNPO that may alter expression of the vit...
|
Hormones & Sleep
|
|
Emerging
|
|
rs2675703
|
OPN4
|
Missense variant (Pro10Leu) in melanopsin, the photopigment driving circadian...
|
Hormones & Sleep
|
|
Emerging
|
|
rs28362944
|
SERPING1
|
5' UTR variant in C1-inhibitor gene that promotes partial exon 2 skipping, re...
|
Hormones & Sleep
|
|
Moderate
|
|
rs324981
|
NPSR1
Asn107Ile
|
Gain-of-function missense variant in the neuropeptide S receptor that increas...
|
Hormones & Sleep
|
|
Moderate
|
|
rs2230912
|
P2RX7
Gln460Arg
|
Missense variant in the C-terminal domain of the P2X7 receptor that disrupts ...
|
Neurology & Cognition
|
|
Moderate
|
|
rs34714364
|
APH1A
APH1A gamma-secretase variant
|
Synonymous variant in CA14 near APH1A; T allele is associated with morning ch...
|
Hormones & Sleep
|
|
Moderate
|
|
rs34903499
|
VIP
|
Synonymous coding variant in the VIP gene (Asn133Asn); the T allele may alter...
|
Hormones & Sleep
|
|
Emerging
|
|
rs35333999
|
PER2
V903I
|
Missense variant in core circadian clock gene PER2 that lengthens intrinsic c...
|
Hormones & Sleep
|
|
Strong
|
|
rs35833281
|
HCRTR2
|
Intronic variant in the orexin/hypocretin receptor 2 gene that tags the HCRTR...
|
Hormones & Sleep
|
|
Strong
|
|
rs3754048
|
APH1A
-980C/G
|
Regulatory variant 2 kb upstream of APH1A where the C allele (paper's G, codi...
|
Hormones & Sleep
|
|
Moderate
|
|
rs3816183
|
HAAO
Ile37Val
|
Missense variant in the kynurenine pathway enzyme HAAO that shifts tryptophan...
|
Hormones & Sleep
|
|
Moderate
|
|
rs3923809
|
BTBD9
|
Second independent intronic BTBD9 variant associated with restless legs syndr...
|
Hormones & Sleep
|
|
Strong
|
|
rs2653349
|
HCRTR2
Ile308Val
|
Missense variant at position 308 of the orexin receptor 2 protein; the minor ...
|
Neurology & Cognition
|
|
Strong
|
|
rs4307059
|
CDH9/CDH10
|
Intergenic variant at 5p14.1 between neuronal cell-adhesion genes CDH9 and CD...
|
Hormones & Sleep
|
|
Strong
|
|
rs4410790
|
AHR
|
Regulatory variant 54 kb upstream of the aryl hydrocarbon receptor gene; the ...
|
Hormones & Sleep
|
|
Strong
|
|
rs306960
|
PTK2
|
Intronic variant in PTK2 (focal adhesion kinase) linked to restless legs synd...
|
Neurology & Cognition
|
|
Strong
|
|
rs4446909
|
ASMT
Promoter A>G
|
Final enzyme in melatonin synthesis; promoter variant reduces ASMT expression...
|
Hormones & Sleep
|
|
Moderate
|
|
rs3129934
|
HLA-DRB5
DR15 haplotype tag
|
Tag SNP for HLA-DRB5*01:01 on the DR15 susceptibility haplotype, physically n...
|
Neurology & Cognition
|
|
Strong
|
|
rs4746
|
GLO1
Glu111Ala
|
Missense variant in glyoxalase 1 reducing enzyme activity, allowing methylgly...
|
Hormones & Sleep
|
|
Moderate
|
|
rs4753426
|
MTNR1B
|
Promoter variant in the melatonin receptor 1B gene that alters MTNR1B express...
|
Hormones & Sleep
|
|
Moderate
|
|
rs4926
|
SERPING1
Val480Met
|
Missense variant in C1-inhibitor gene associated with insomnia risk through n...
|
Hormones & Sleep
|
|
Moderate
|
|
rs516134
|
RGS16
RGS16 chronotype variant
|
Regulatory variant ~20 kb downstream of RGS16 that influences circadian chron...
|
Hormones & Sleep
|
|
Strong
|
|
rs55694368
|
PER2
PER2 regulatory variant
|
Upstream regulatory signal near the core circadian clock gene PER2 that shift...
|
Hormones & Sleep
|
|
Strong
|
|
rs5751876
|
ADORA2A
1976T>C
|
Adenosine A2A receptor variant that determines individual sensitivity to caff...
|
Hormones & Sleep
|
|
Strong
|
|
rs3756059
|
SNCA
|
Intronic SNCA variant at the 5′ locus associated with REM sleep behavior diso...
|
Neurology & Cognition
|
|
Strong
|
|
rs757081
|
NUCB2
Gln338Glu (Q338E)
|
Missense variant in nucleobindin-2, the precursor protein cleaved to produce ...
|
Hormones & Sleep
|
|
Moderate
|
|
rs9394502
|
BTBD9
BTBD9 insomnia/RLS variant
|
Intronic variant in the canonical restless legs syndrome gene BTBD9, associat...
|
Hormones & Sleep
|
|
Strong
|
|
rs9479402
|
VIP
VIP chronotype variant
|
Intergenic variant ~54 kb downstream of the VIP gene; the C allele reduces VI...
|
Hormones & Sleep
|
|
Strong
|
|
rs9565309
|
FBXL3
FBXL3 circadian variant
|
Regulatory variant near FBXL3 that modulates circadian period length; the C a...
|
Hormones & Sleep
|
|
Strong
|
|
rs76763715
|
GBA
N409S
|
GBA missense variant (p.Asn409Ser, formerly N370S) — the most common GBA path...
|
Neurology & Cognition
|
|
Established
|
|
rs7697073
|
SCARB2
|
Intronic SCARB2 variant associated with REM sleep behavior disorder risk via ...
|
Neurology & Cognition
|
|
Moderate
|