CTSH, cathepsin H, 1512

N. diseases: 63; N. variants: 6
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: rs3825932
rs3825932 		0.827 0.360 15 78943104 intron variant T/C snv 0.50
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 2 2008 2009
dbSNP: rs12592898
rs12592898 		15 78936857 intron variant A/G snv 0.85
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2289702
rs2289702 		0.851 0.120 15 78944951 missense variant C/T snv 9.3E-02 7.8E-02
CUI: C0027404
Disease: Narcolepsy
Narcolepsy 		Nervous System Diseases; Mental Disorders 0.700 1.000 1 2013 2013
dbSNP: rs2289702
rs2289702 		0.851 0.120 15 78944951 missense variant C/T snv 9.3E-02 7.8E-02
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs2289702
rs2289702 		0.851 0.120 15 78944951 missense variant C/T snv 9.3E-02 7.8E-02
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs2289702
rs2289702 		0.851 0.120 15 78944951 missense variant C/T snv 9.3E-02 7.8E-02
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs34593439
rs34593439 		1.000 0.120 15 78942615 intron variant G/A;C snv 0.10
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs34593439
rs34593439 		1.000 0.120 15 78942615 intron variant G/A;C snv 0.10
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.700 1.000 1 2015 2015
dbSNP: rs3825932
rs3825932 		0.827 0.360 15 78943104 intron variant T/C snv 0.50
CUI: C0200635
Disease: Lymphocyte Count measurement
Lymphocyte Count measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3825932
rs3825932 		0.827 0.360 15 78943104 intron variant T/C snv 0.50
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs62013227
rs62013227 		15 78938704 intron variant G/T snv 0.13
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs78813423
rs78813423 		15 78938663 intron variant T/C snv 1.0E-01
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs3825932
rs3825932 		0.827 0.360 15 78943104 intron variant T/C snv 0.50
CUI: C0011884
Disease: Diabetic Retinopathy
Diabetic Retinopathy 		Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3825932
rs3825932 		0.827 0.360 15 78943104 intron variant T/C snv 0.50
CUI: C0154830
Disease: Proliferative diabetic retinopathy
Proliferative diabetic retinopathy 		Pathological Conditions, Signs and Symptoms; Eye Diseases; Endocrine System Diseases; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs3825932
rs3825932 		0.827 0.360 15 78943104 intron variant T/C snv 0.50
CUI: C1845050
Disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases 0.010 1.000 1 2015 2015