PBRM1, polybromo 1, 55193

N. diseases: 105; N. variants: 54
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: rs10933
rs10933 		3 52685800 5 prime UTR variant C/T snv 0.39
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs1108842
rs1108842 		3 52686064 5 prime UTR variant A/C;G;T snv 0.49; 4.0E-06
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs1108842
rs1108842 		3 52686064 5 prime UTR variant A/C;G;T snv 0.49; 4.0E-06
CUI: C2700366
Disease: Adiponectin Measurement
Adiponectin Measurement 		0.800 1.000 1 2012 2012
dbSNP: rs12493107
rs12493107 		3 52672708 intron variant G/T snv 0.33
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs13083798
rs13083798 		3 52615732 intron variant A/G snv 0.51
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs13083798
rs13083798 		3 52615732 intron variant A/G snv 0.51
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs13083798
rs13083798 		3 52615732 intron variant A/G snv 0.51
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs2276824
rs2276824 		3 52603470 intron variant C/G snv 0.54 0.61
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs2276824
rs2276824 		3 52603470 intron variant C/G snv 0.54 0.61
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2018 2018
dbSNP: rs2276824
rs2276824 		3 52603470 intron variant C/G snv 0.54 0.61
CUI: C1519383
Disease: Smoking Behaviors
Smoking Behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2017 2017
dbSNP: rs2590838
rs2590838 		3 52588070 intron variant G/A snv 0.55
CUI: C4049938
Disease: Physical Activity Measurement
Physical Activity Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs2590838
rs2590838 		3 52588070 intron variant G/A snv 0.55
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2018 2018
dbSNP: rs2590838
rs2590838 		3 52588070 intron variant G/A snv 0.55
CUI: C2700366
Disease: Adiponectin Measurement
Adiponectin Measurement 		0.800 1.000 1 2012 2012
dbSNP: rs34218707
rs34218707 		3 52666891 intron variant AAAAA/-;A;AA;AAA;AAAA;AAAAAA;AAAAAAA delins
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs565817433
rs565817433 		3 52684168 intron variant AAAAAAAAAAAAAAA/-;A;AA;AAA;AAAA;AAAAA;AAAAAA;AAAAAAA;AAAAAAAA;AAAAAAAAA;AAAAAAAAAA;AAAAAAAAAAA;AAAAAAAAAAAA;AAAAAAAAAAAAA;AAAAAAAAAAAAAA;AAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAA;AAAAAAAAAAAAAAAAAAAAAAAAAAAA delins
CUI: C0424621
Disease: Body Fat Distribution
Body Fat Distribution 		0.700 1.000 1 2019 2019
dbSNP: rs975052107
rs975052107 		3 52563348 missense variant A/G snv
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 < 0.001 1 2014 2014
dbSNP: rs9879090
rs9879090 		3 52614249 intron variant T/A;C snv
CUI: C0021704
Disease: Intelligence
Intelligence 		Behavior and Behavior Mechanisms 0.700 1.000 1 2018 2018
dbSNP: rs2251219
rs2251219 		0.732 0.120 3 52550771 synonymous variant T/C;G snv 0.39; 4.0E-06 0.34
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.720 1.000 3 2012 2013
dbSNP: rs2251219
rs2251219 		0.732 0.120 3 52550771 synonymous variant T/C;G snv 0.39; 4.0E-06 0.34
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.710 1.000 2 2012 2013
dbSNP: rs2251219
rs2251219 		0.732 0.120 3 52550771 synonymous variant T/C;G snv 0.39; 4.0E-06 0.34
CUI: C2700438
Disease: MAJOR AFFECTIVE DISORDER 7
MAJOR AFFECTIVE DISORDER 7 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs2251219
rs2251219 		0.732 0.120 3 52550771 synonymous variant T/C;G snv 0.39; 4.0E-06 0.34
CUI: C1970943
Disease: MAJOR AFFECTIVE DISORDER 4
MAJOR AFFECTIVE DISORDER 4 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs2251219
rs2251219 		0.732 0.120 3 52550771 synonymous variant T/C;G snv 0.39; 4.0E-06 0.34
CUI: C0006287
Disease: Bronchopulmonary Dysplasia
Bronchopulmonary Dysplasia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2251219
rs2251219 		0.732 0.120 3 52550771 synonymous variant T/C;G snv 0.39; 4.0E-06 0.34
CUI: C2700439
Disease: MAJOR AFFECTIVE DISORDER 8
MAJOR AFFECTIVE DISORDER 8 		Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs2251219
rs2251219 		0.732 0.120 3 52550771 synonymous variant T/C;G snv 0.39; 4.0E-06 0.34
CUI: C0349204
Disease: Nonorganic psychosis
Nonorganic psychosis 		Mental Disorders 0.010 1.000 1 2013 2013
dbSNP: rs2251219
rs2251219 		0.732 0.120 3 52550771 synonymous variant T/C;G snv 0.39; 4.0E-06 0.34
CUI: C1852197
Disease: MAJOR AFFECTIVE DISORDER 1
MAJOR AFFECTIVE DISORDER 1 		Mental Disorders 0.010 1.000 1 2012 2012