PER2, period circadian regulator 2, 8864

N. diseases: 238; N. variants: 15
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908635
rs121908635 		0.925 0.120 2 238257003 missense variant T/C snv
CUI: C3807327
Disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 		0.700 1.000 1 2001 2001
dbSNP: rs35333999
rs35333999 		2 238253316 missense variant C/T snv 2.9E-02 3.0E-02
CUI: C0008810
Disease: Circadian Rhythms
Circadian Rhythms 		0.700 1.000 1 2016 2016
dbSNP: rs74508725
rs74508725 		2 238278568 intron variant G/A;C snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs1559332542
rs1559332542 		1.000 2 238271489 frameshift variant G/- delins
CUI: C3807327
Disease: ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1
ADVANCED SLEEP PHASE SYNDROME, FAMILIAL, 1 		0.700 0
dbSNP: rs10462023
rs10462023 		2 238275940 intron variant G/A snv 0.31 0.27
CUI: C0033975
Disease: Psychotic Disorders
Psychotic Disorders 		Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs121908635
rs121908635 		0.925 0.120 2 238257003 missense variant T/C snv
CUI: C1858496
Disease: Advanced Sleep-Phase Syndrome, Familial
Advanced Sleep-Phase Syndrome, Familial 		Nervous System Diseases; Mental Disorders; Occupational Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1376122529
rs1376122529 		1.000 0.040 2 238252912 splice region variant G/A snv 4.0E-06 7.0E-06
CUI: C0270853
Disease: Juvenile Myoclonic Epilepsy
Juvenile Myoclonic Epilepsy 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs181985043
rs181985043 		0.790 0.240 2 238262991 missense variant G/A;T snv 4.0E-06
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs181985043
rs181985043 		0.790 0.240 2 238262991 missense variant G/A;T snv 4.0E-06
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs181985043
rs181985043 		0.790 0.240 2 238262991 missense variant G/A;T snv 4.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs181985043
rs181985043 		0.790 0.240 2 238262991 missense variant G/A;T snv 4.0E-06
CUI: C0519066
Disease: Acute Q fever
Acute Q fever 		Infections 0.010 1.000 1 2016 2016
dbSNP: rs181985043
rs181985043 		0.790 0.240 2 238262991 missense variant G/A;T snv 4.0E-06
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs181985043
rs181985043 		0.790 0.240 2 238262991 missense variant G/A;T snv 4.0E-06
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs181985043
rs181985043 		0.790 0.240 2 238262991 missense variant G/A;T snv 4.0E-06
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs181985043
rs181985043 		0.790 0.240 2 238262991 missense variant G/A;T snv 4.0E-06
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs184017310
rs184017310 		1.000 0.120 2 238277932 missense variant T/C snv 4.5E-05 7.0E-05
CUI: C0268490
Disease: Tyrosinemia, Type I
Tyrosinemia, Type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2304672
rs2304672 		0.925 0.080 2 238277948 5 prime UTR variant G/C snv 9.4E-02 9.3E-02
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs2304672
rs2304672 		0.925 0.080 2 238277948 5 prime UTR variant G/C snv 9.4E-02 9.3E-02
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2304674
rs2304674 		1.000 0.120 2 238273263 intron variant A/G snv 0.35
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs56013859
rs56013859 		0.925 0.080 2 238276865 intron variant T/C snv 0.11
CUI: C0001956
Disease: Alcohol Use Disorder
Alcohol Use Disorder 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs56013859
rs56013859 		0.925 0.080 2 238276865 intron variant T/C snv 0.11
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.010 1.000 1 2015 2015
dbSNP: rs6754875
rs6754875 		1.000 0.120 2 238284578 intron variant A/C snv 0.44
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs754745652
rs754745652 		1.000 0.120 2 238277810 missense variant T/A;C snv 4.0E-06; 4.0E-06
CUI: C1858496
Disease: Advanced Sleep-Phase Syndrome, Familial
Advanced Sleep-Phase Syndrome, Familial 		Nervous System Diseases; Mental Disorders; Occupational Diseases 0.010 1.000 1 2005 2005
dbSNP: rs76355956
rs76355956 		1.000 0.120 2 238249067 missense variant C/T snv 1.8E-03 8.5E-04
CUI: C0393770
Disease: Delayed Sleep Phase Syndrome
Delayed Sleep Phase Syndrome 		Nervous System Diseases; Mental Disorders; Occupational Diseases 0.010 1.000 1 2019 2019
dbSNP: rs934945
rs934945 		0.827 0.200 2 238246412 missense variant C/T snv 0.21 0.15
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
Malignant neoplasm of soft tissue 		Neoplasms 0.010 1.000 1 2018 2018