PRKCA, protein kinase C alpha, 5578

N. diseases: 368; N. variants: 15
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: rs3889237
rs3889237 		17 66783312 intron variant G/T snv 0.55
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2012 2012
dbSNP: rs3889237
rs3889237 		17 66783312 intron variant G/T snv 0.55
CUI: C0489786
Disease: Height
Height 		0.700 1.000 1 2012 2012
dbSNP: rs72843895
rs72843895 		17 66335038 intron variant T/G snv 0.31
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs72843902
rs72843902 		17 66347287 intron variant T/C snv 0.23
CUI: C0596887
Disease: mathematical ability
mathematical ability 		0.700 1.000 1 2018 2018
dbSNP: rs74902201
rs74902201 		17 66715445 intron variant G/A snv 5.0E-02
CUI: C0015745
Disease: Feeding behaviors
Feeding behaviors 		Behavior and Behavior Mechanisms 0.700 1.000 1 2016 2016
dbSNP: rs9303509
rs9303509 		17 66534769 intron variant C/A;G snv
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs9303509
rs9303509 		17 66534769 intron variant C/A;G snv
CUI: C0428886
Disease: Mean blood pressure
Mean blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs9303509
rs9303509 		17 66534769 intron variant C/A;G snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs9892651
rs9892651 		17 66307675 intron variant C/T snv 0.59
CUI: C0429028
Disease: QT interval feature (observable entity)
QT interval feature (observable entity) 		0.700 1.000 1 2014 2014
dbSNP: rs9900205
rs9900205 		0.925 0.120 17 66718990 intron variant A/C;T snv
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs9900205
rs9900205 		0.925 0.120 17 66718990 intron variant A/C;T snv
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2012 2012
dbSNP: rs9912468
rs9912468 		17 66322239 intron variant G/A;C snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2018 2018
dbSNP: rs9912468
rs9912468 		17 66322239 intron variant G/A;C snv
CUI: C0018803
Disease: Heart Function Tests
Heart Function Tests 		0.700 1.000 1 2010 2010
dbSNP: rs9912468
rs9912468 		17 66322239 intron variant G/A;C snv
CUI: C0429097
Disease: QRS complex feature
QRS complex feature 		0.700 1.000 1 2016 2016
dbSNP: rs9909004
rs9909004 		0.925 0.040 17 66310015 intron variant C/T snv 0.59
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure 		Cardiovascular Diseases 0.020 1.000 2 2017 2019
dbSNP: rs9909004
rs9909004 		0.925 0.040 17 66310015 intron variant C/T snv 0.59
CUI: C0018801
Disease: Heart failure
Heart failure 		Cardiovascular Diseases 0.020 1.000 2 2017 2019
dbSNP: rs11079657
rs11079657 		1.000 0.080 17 66435948 intron variant A/G snv 0.63
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs121917733
rs121917733 		1.000 0.040 17 66689010 missense variant A/G snv
CUI: C0007133
Disease: Carcinoma, Papillary
Carcinoma, Papillary 		Neoplasms 0.010 1.000 1 2002 2002
dbSNP: rs16960228
rs16960228 		1.000 0.040 17 66792709 intron variant G/A snv 0.13
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs7342847
rs7342847 		0.925 0.080 17 66806426 3 prime UTR variant C/T snv 0.39
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs7342847
rs7342847 		0.925 0.080 17 66806426 3 prime UTR variant C/T snv 0.39
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2009 2009
dbSNP: rs8074995
rs8074995 		0.925 0.040 17 66796013 intron variant G/A snv 0.13
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs8074995
rs8074995 		0.925 0.040 17 66796013 intron variant G/A snv 0.13
CUI: C0338656
Disease: Impaired cognition
Impaired cognition 		Mental Disorders 0.010 1.000 1 2011 2011
dbSNP: rs8074995
rs8074995 		0.925 0.040 17 66796013 intron variant G/A snv 0.13
CUI: C0233794
Disease: Memory impairment
Memory impairment 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms 0.010 1.000 1 2011 2011
dbSNP: rs8074995
rs8074995 		0.925 0.040 17 66796013 intron variant G/A snv 0.13
CUI: C0009241
Disease: Cognition Disorders
Cognition Disorders 		Mental Disorders 0.010 1.000 1 2011 2011