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: 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
dbSNP: rs2251219
rs2251219
0.732 0.120 3 52550771 synonymous variant T/C;G snv 0.39; 4.0E-06 0.34
CUI: C2700440
Disease: MAJOR AFFECTIVE DISORDER 9
MAJOR AFFECTIVE DISORDER 9
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: C0033975
Disease: Psychotic Disorders
Psychotic Disorders
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: C1970945
Disease: MAJOR AFFECTIVE DISORDER 6
MAJOR AFFECTIVE DISORDER 6
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: C0006012
Disease: Borderline Personality Disorder
Borderline Personality Disorder
Mental Disorders 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: C0525045
Disease: Mood Disorders
Mood Disorders
Mental Disorders 0.810 1.000 1 2010 2010
dbSNP: rs2251219
rs2251219
0.732 0.120 3 52550771 synonymous variant T/C;G snv 0.39; 4.0E-06 0.34
CUI: C1839839
Disease: MAJOR AFFECTIVE DISORDER 2
MAJOR AFFECTIVE DISORDER 2
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Mental Disorders 0.010 1.000 1 2012 2012
dbSNP: rs3755806
rs3755806
0.925 0.040 3 52609669 synonymous variant T/C snv 0.39 0.34
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
Mental Disorders 0.700 1.000 2 2013 2013
dbSNP: rs11720243
rs11720243
0.925 0.040 3 52584002 intron variant T/C snv 0.46
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs11720243
rs11720243
0.925 0.040 3 52584002 intron variant T/C snv 0.46
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs13063160
rs13063160
1.000 0.040 3 52568258 intron variant T/C snv 0.46
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs13064064
rs13064064
0.925 0.040 3 52622986 intron variant T/C snv 0.34
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs13064064
rs13064064
0.925 0.040 3 52622986 intron variant T/C snv 0.34
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs1468575151
rs1468575151
0.925 0.080 3 52668520 missense variant T/C snv 7.0E-06
CUI: C0021400
Disease: Influenza
Influenza
Infections; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1468575151
rs1468575151
0.925 0.080 3 52668520 missense variant T/C snv 7.0E-06
CUI: C2748361
Disease: H5N1 influenza
H5N1 influenza
0.010 1.000 1 2013 2013
dbSNP: rs3755806
rs3755806
0.925 0.040 3 52609669 synonymous variant T/C snv 0.39 0.34
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs3774366
rs3774366
0.925 0.040 3 52607239 intron variant T/C snv 0.46
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs3774366
rs3774366
0.925 0.040 3 52607239 intron variant T/C snv 0.46
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
Mental Disorders 0.700 1.000 1 2013 2013