CTSS, cathepsin S, 1520

N. diseases: 131; N. variants: 10
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: rs41271951
rs41271951 		0.882 0.040 1 150764744 missense variant A/G snv 5.1E-02 5.1E-02
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs41271951
rs41271951 		0.882 0.040 1 150764744 missense variant A/G snv 5.1E-02 5.1E-02
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs41271951
rs41271951 		0.882 0.040 1 150764744 missense variant A/G snv 5.1E-02 5.1E-02
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs41271951
rs41271951 		0.882 0.040 1 150764744 missense variant A/G snv 5.1E-02 5.1E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1136774
rs1136774 		1.000 0.080 1 150765721 5 prime UTR variant C/T snv 0.41
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs11576175
rs11576175 		1.000 1 150754918 intron variant G/A snv 7.2E-02
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs11576175
rs11576175 		1.000 1 150754918 intron variant G/A snv 7.2E-02
CUI: C2721593
Disease: Borderline hypercholesterolaemia
Borderline hypercholesterolaemia 		0.010 1.000 1 2013 2013
dbSNP: rs12068264
rs12068264 		1.000 0.040 1 150754853 intron variant C/T snv 0.34
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2018 2018
dbSNP: rs12568757
rs12568757 		1 150757317 intron variant G/A snv 0.42
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs12568757
rs12568757 		1 150757317 intron variant G/A snv 0.42
CUI: C4721453
Disease: Peripheral Nervous System Diseases
Peripheral Nervous System Diseases 		Nervous System Diseases 0.010 1.000 1 2011 2011
dbSNP: rs16827671
rs16827671 		1.000 0.040 1 150766283 upstream gene variant T/C snv 0.35
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2275235
rs2275235 		1.000 0.120 1 150757803 intron variant A/G snv 0.34
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs7534124
rs7534124 		1.000 0.080 1 150766597 upstream gene variant C/T snv 0.42
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs774320676
rs774320676 		1.000 0.120 1 150750091 missense variant A/T snv 4.0E-06
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs928508030
rs928508030 		1.000 0.120 1 150765698 splice region variant G/A snv
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2018 2018