PER1, period circadian regulator 1, 5187

N. diseases: 111; N. variants: 8
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: rs1323588262
rs1323588262 		1.000 0.080 17 8143384 missense variant T/C snv 1.2E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs761958964
rs761958964 		1.000 0.080 17 8142729 missense variant G/A snv 1.6E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs3027172
rs3027172 		0.925 0.080 17 8152405 missense variant A/G snv 0.38 0.17
CUI: C0001973
Disease: Alcoholic Intoxication, Chronic
Alcoholic Intoxication, Chronic 		Chemically-Induced Disorders; Mental Disorders 0.020 1.000 2 2011 2015
dbSNP: rs2289591
rs2289591 		0.882 0.080 17 8144692 stop gained C/A;G;T snv 0.17; 7.2E-06; 7.2E-06
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2289591
rs2289591 		0.882 0.080 17 8144692 stop gained C/A;G;T snv 0.17; 7.2E-06; 7.2E-06
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs2289591
rs2289591 		0.882 0.080 17 8144692 stop gained C/A;G;T snv 0.17; 7.2E-06; 7.2E-06
CUI: C0017638
Disease: Glioma
Glioma 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs3027172
rs3027172 		0.925 0.080 17 8152405 missense variant A/G snv 0.38 0.17
CUI: C0687132
Disease: heavy drinking
heavy drinking 		0.010 1.000 1 2011 2011
dbSNP: rs3027178
rs3027178 		0.882 0.040 17 8149767 synonymous variant T/G snv 0.30 0.29
CUI: C0279984
Disease: Childhood Liposarcoma
Childhood Liposarcoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs3027178
rs3027178 		0.882 0.040 17 8149767 synonymous variant T/G snv 0.30 0.29
CUI: C0278608
Disease: Adult Liposarcoma
Adult Liposarcoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs3027178
rs3027178 		0.882 0.040 17 8149767 synonymous variant T/G snv 0.30 0.29
CUI: C0023827
Disease: liposarcoma
liposarcoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs3027188
rs3027188 		0.925 0.080 17 8145667 intron variant G/C snv 0.75
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3027188
rs3027188 		0.925 0.080 17 8145667 intron variant G/C snv 0.75
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2013 2013
dbSNP: rs35275025
rs35275025 		1.000 0.080 17 8141219 missense variant C/G;T snv 4.0E-06
CUI: C0037317
Disease: Sleep disturbances
Sleep disturbances 		Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms 0.010 1.000 1 2016 2016
dbSNP: rs35275025
rs35275025 		1.000 0.080 17 8141219 missense variant C/G;T snv 4.0E-06
CUI: C0700201
Disease: Dyssomnias
Dyssomnias 		Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs35275025
rs35275025 		1.000 0.080 17 8141219 missense variant C/G;T snv 4.0E-06
CUI: C0851578
Disease: Sleep Disorders
Sleep Disorders 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders 0.010 1.000 1 2016 2016
dbSNP: rs885747
rs885747 		0.925 0.080 17 8147419 intron variant G/A;C;T snv 7.7E-05; 0.37; 1.6E-05
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2009 2009
dbSNP: rs885747
rs885747 		0.925 0.080 17 8147419 intron variant G/A;C;T snv 7.7E-05; 0.37; 1.6E-05
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2009 2009