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: rs10865974
rs10865974
0.925 0.040 3 52684264 intron variant G/C;T snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs10865974
rs10865974
0.925 0.040 3 52684264 intron variant G/C;T snv
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
Mental Disorders 0.700 1.000 1 2013 2013
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: rs12487445
rs12487445
0.925 0.040 3 52584303 intron variant A/C;T snv
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs12487445
rs12487445
0.925 0.040 3 52584303 intron variant A/C;T snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs12488461
rs12488461
1.000 0.040 3 52664401 intron variant T/A;C snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs13068293
rs13068293
0.925 0.040 3 52638151 intron variant C/A;G snv
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs13068293
rs13068293
0.925 0.040 3 52638151 intron variant C/A;G snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs2336146
rs2336146
0.925 0.040 3 52592630 intron variant A/G;T snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs2336146
rs2336146
0.925 0.040 3 52592630 intron variant A/G;T snv
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs2336149
rs2336149
0.925 0.040 3 52658108 intron variant G/A;C snv
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs2336149
rs2336149
0.925 0.040 3 52658108 intron variant G/A;C snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs33967311
rs33967311
1.000 0.040 3 52649848 intron variant C/A;T snv
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2013 2013
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: rs3733045
rs3733045
0.925 0.040 3 52609291 non coding transcript exon variant A/G;T snv 0.44
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs3733045
rs3733045
0.925 0.040 3 52609291 non coding transcript exon variant A/G;T snv 0.44
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder
Mental Disorders 0.700 1.000 1 2013 2013
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: rs864321679
rs864321679
1.000 0.120 3 52563364 frameshift variant CACTATCT/- delins
Conventional (Clear Cell) Renal Cell Carcinoma
Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
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: rs2289249
rs2289249
1.000 0.040 3 52563648 intron variant G/A snv 0.33
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs11714419
rs11714419
1.000 0.040 3 52594800 intron variant A/G snv 0.33
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder
Mental Disorders 0.700 1.000 1 2013 2013