CTSB, cathepsin B, 1508

N. diseases: 304; N. variants: 17
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: rs1052020291
rs1052020291 		1.000 0.080 8 11848075 missense variant G/C snv 7.0E-06
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs200664537
rs200664537 		1.000 0.080 8 11847084 missense variant G/A;C snv 4.0E-06; 1.2E-04
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs775321729
rs775321729 		1.000 0.080 8 11845687 missense variant G/A;C snv 2.0E-05; 4.0E-06
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs779738653
rs779738653 		1.000 0.080 8 11847083 frameshift variant GA/- delins 4.0E-05 2.8E-05
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2019 2019
dbSNP: rs1293292
rs1293292 		8 11852860 intron variant G/A;C snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1692819
rs1692819 		8 11847939 intron variant G/A snv 0.18
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs1736089
rs1736089 		8 11848361 non coding transcript exon variant G/A snv 0.17 0.16
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs709822
rs709822 		8 11844804 3 prime UTR variant C/G;T snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2740594
rs2740594 		1.000 0.040 8 11849665 intron variant A/C;G snv
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		Nervous System Diseases 0.700 1.000 1 2017 2017
dbSNP: rs3947
rs3947 		8 11844866 3 prime UTR variant G/A snv 0.19
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2017 2017
dbSNP: rs12338
rs12338 		0.807 0.200 8 11853379 missense variant G/A;C;T snv 8.0E-06; 0.38; 2.4E-05
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2010 2014
dbSNP: rs12338
rs12338 		0.807 0.200 8 11853379 missense variant G/A;C;T snv 8.0E-06; 0.38; 2.4E-05
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.020 1.000 2 2010 2014
dbSNP: rs12338
rs12338 		0.807 0.200 8 11853379 missense variant G/A;C;T snv 8.0E-06; 0.38; 2.4E-05
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs12338
rs12338 		0.807 0.200 8 11853379 missense variant G/A;C;T snv 8.0E-06; 0.38; 2.4E-05
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs13332
rs13332 		0.925 0.120 8 11849072 synonymous variant T/C;G snv 3.5E-02; 0.56
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs13332
rs13332 		0.925 0.120 8 11849072 synonymous variant T/C;G snv 3.5E-02; 0.56
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs13332
rs13332 		0.925 0.120 8 11849072 synonymous variant T/C;G snv 3.5E-02; 0.56
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs13332
rs13332 		0.925 0.120 8 11849072 synonymous variant T/C;G snv 3.5E-02; 0.56
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs8898
rs8898 		0.925 0.120 8 11845033 3 prime UTR variant T/C snv 0.37
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs762727745
rs762727745 		1.000 0.040 8 11847803 synonymous variant G/A snv 1.7E-05
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		Digestive System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs12338
rs12338 		0.807 0.200 8 11853379 missense variant G/A;C;T snv 8.0E-06; 0.38; 2.4E-05
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12338
rs12338 		0.807 0.200 8 11853379 missense variant G/A;C;T snv 8.0E-06; 0.38; 2.4E-05
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs13332
rs13332 		0.925 0.120 8 11849072 synonymous variant T/C;G snv 3.5E-02; 0.56
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs13332
rs13332 		0.925 0.120 8 11849072 synonymous variant T/C;G snv 3.5E-02; 0.56
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs8898
rs8898 		0.925 0.120 8 11845033 3 prime UTR variant T/C snv 0.37
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2012 2012