PRKCB, protein kinase C beta, 5579

N. diseases: 317; N. variants: 18
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: rs1466858740
rs1466858740 		1.000 0.040 16 24180881 missense variant G/A snv
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		Neoplasms 0.700 0
dbSNP: rs764534677
rs764534677 		1.000 0.080 16 24035448 missense variant G/A snv 8.0E-06
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs199901715
rs199901715 		1.000 0.040 16 24113032 missense variant G/A snv 2.2E-04 2.9E-04
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs2575390
rs2575390 		0.925 0.080 16 23835433 upstream gene variant G/A;C snv
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2575390
rs2575390 		0.925 0.080 16 23835433 upstream gene variant G/A;C snv
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs2575390
rs2575390 		0.925 0.080 16 23835433 upstream gene variant G/A;C snv
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3760106
rs3760106 		0.925 0.080 16 23834475 upstream gene variant C/T snv 0.23
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3760106
rs3760106 		0.925 0.080 16 23834475 upstream gene variant C/T snv 0.23
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs3760106
rs3760106 		0.925 0.080 16 23834475 upstream gene variant C/T snv 0.23
CUI: C1561643
Disease: Chronic Kidney Diseases
Chronic Kidney Diseases 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs8059889
rs8059889 		16 24216112 3 prime UTR variant G/A snv 1.3E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs1460808228
rs1460808228 		0.851 0.040 16 24185518 missense variant T/C snv 7.0E-06
CUI: C0004352
Disease: Autistic Disorder
Autistic Disorder 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs1460808228
rs1460808228 		0.851 0.040 16 24185518 missense variant T/C snv 7.0E-06
CUI: C1263846
Disease: Attention deficit hyperactivity disorder
Attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs1460808228
rs1460808228 		0.851 0.040 16 24185518 missense variant T/C snv 7.0E-06
CUI: C1510586
Disease: Autism Spectrum Disorders
Autism Spectrum Disorders 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs1460808228
rs1460808228 		0.851 0.040 16 24185518 missense variant T/C snv 7.0E-06
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs12921419
rs12921419 		1.000 0.040 16 24078450 intron variant A/G;T snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs12921419
rs12921419 		1.000 0.040 16 24078450 intron variant A/G;T snv
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs12929627
rs12929627 		1.000 0.040 16 24083656 intron variant G/A;T snv
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs12929627
rs12929627 		1.000 0.040 16 24083656 intron variant G/A;T snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs34289708
rs34289708 		1.000 0.040 16 24084053 intron variant T/C snv 1.4E-02
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs34289708
rs34289708 		1.000 0.040 16 24084053 intron variant T/C snv 1.4E-02
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs35526040
rs35526040 		1.000 0.040 16 24082016 intron variant G/T snv 1.4E-02
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs35526040
rs35526040 		1.000 0.040 16 24082016 intron variant G/T snv 1.4E-02
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs9928486
rs9928486 		1.000 0.040 16 24076855 intron variant T/C snv 1.4E-02
CUI: C3548479
Disease: response to bronchodilator
response to bronchodilator 		0.700 1.000 1 2015 2015
dbSNP: rs9928486
rs9928486 		1.000 0.040 16 24076855 intron variant T/C snv 1.4E-02
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.700 1.000 1 2015 2015
dbSNP: rs1131692056
rs1131692056 		1.000 0.120 16 23988577 missense variant G/T snv 7.0E-06
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2016 2016