PRKCQ, protein kinase C theta, 5588

N. diseases: 53; N. variants: 13
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: rs11258747
rs11258747 		1.000 0.120 10 6430929 missense variant G/C;T snv 4.0E-06; 0.17
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.800 1.000 1 2009 2009
dbSNP: rs2236379
rs2236379 		0.790 0.160 10 6485181 missense variant G/A snv 0.31 0.30
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.710 1.000 2 2016 2019
dbSNP: rs943451
rs943451 		0.925 0.080 10 6579811 intron variant T/C snv 0.51
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 2 2019 2019
dbSNP: rs11259097
rs11259097 		1.000 0.040 10 6479572 intron variant G/A snv 0.13
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs12269156
rs12269156 		10 6470618 intron variant A/G snv 3.4E-02
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12269156
rs12269156 		10 6470618 intron variant A/G snv 3.4E-02
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12269156
rs12269156 		10 6470618 intron variant A/G snv 3.4E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs2236379
rs2236379 		0.790 0.160 10 6485181 missense variant G/A snv 0.31 0.30
CUI: C0008313
Disease: Cholangitis, Sclerosing
Cholangitis, Sclerosing 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2236379
rs2236379 		0.790 0.160 10 6485181 missense variant G/A snv 0.31 0.30
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2236379
rs2236379 		0.790 0.160 10 6485181 missense variant G/A snv 0.31 0.30
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2236379
rs2236379 		0.790 0.160 10 6485181 missense variant G/A snv 0.31 0.30
CUI: C0033860
Disease: Psoriasis
Psoriasis 		Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs2236379
rs2236379 		0.790 0.160 10 6485181 missense variant G/A snv 0.31 0.30
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs3793730
rs3793730 		1.000 0.040 10 6480736 intron variant G/C snv 0.12
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs4748153
rs4748153 		10 6564579 intron variant C/T snv 0.10
CUI: C2699541
Disease: Cytokine Measurement
Cytokine Measurement 		0.700 1.000 1 2012 2012
dbSNP: rs494800
rs494800 		1.000 0.040 10 6480946 intron variant T/G snv 0.77
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs501878
rs501878 		1.000 0.040 10 6484535 intron variant T/G snv 0.30
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs656715
rs656715 		1.000 0.040 10 6478587 intron variant A/G snv 0.18
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs661891
rs661891 		1.000 0.040 10 6485382 intron variant A/C snv 0.46
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs688879
rs688879 		1.000 0.040 10 6483991 intron variant G/C;T snv
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs7083579
rs7083579 		1.000 0.040 10 6478622 intron variant T/C snv 0.11
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.700 1.000 1 2017 2017
dbSNP: rs943451
rs943451 		0.925 0.080 10 6579811 intron variant T/C snv 0.51
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2019 2019
dbSNP: rs2236379
rs2236379 		0.790 0.160 10 6485181 missense variant G/A snv 0.31 0.30
CUI: C0678202
Disease: Regional enteritis
Regional enteritis 		Digestive System Diseases 0.700 0