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: rs12338
rs12338 		0.807 0.200 8 11853379 missense variant G/A;C;T snv 8.0E-06; 0.38; 2.4E-05
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.020 1.000 2 2006 2008
dbSNP: rs747940576
rs747940576 		0.882 0.120 8 11853351 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.020 1.000 2 2006 2008
dbSNP: rs776941569
rs776941569 		0.851 0.160 8 11853378 frameshift variant AG/- del 1.6E-04 1.5E-04
CUI: C1842402
Disease: TROPICAL CALCIFIC PANCREATITIS
TROPICAL CALCIFIC PANCREATITIS 		Digestive System Diseases; Nutritional and Metabolic Diseases 0.020 1.000 2 2006 2008
dbSNP: rs747940576
rs747940576 		0.882 0.120 8 11853351 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs747940576
rs747940576 		0.882 0.120 8 11853351 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2008 2008
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: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
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: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
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: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1457713736
rs1457713736 		8 11850867 stop gained C/T snv 7.0E-06
CUI: C0027765
Disease: nervous system disorder
nervous system disorder 		Nervous System Diseases 0.010 1.000 1 2010 2010
dbSNP: rs776941569
rs776941569 		0.851 0.160 8 11853378 frameshift variant AG/- del 1.6E-04 1.5E-04
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs776941569
rs776941569 		0.851 0.160 8 11853378 frameshift variant AG/- del 1.6E-04 1.5E-04
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs776941569
rs776941569 		0.851 0.160 8 11853378 frameshift variant AG/- del 1.6E-04 1.5E-04
CUI: C0007112
Disease: Adenocarcinoma of prostate
Adenocarcinoma of prostate 		Neoplasms; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs776941569
rs776941569 		0.851 0.160 8 11853378 frameshift variant AG/- del 1.6E-04 1.5E-04
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs776941569
rs776941569 		0.851 0.160 8 11853378 frameshift variant AG/- del 1.6E-04 1.5E-04
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs747940576
rs747940576 		0.882 0.120 8 11853351 missense variant T/C snv 4.0E-06 1.4E-05
CUI: C0149521
Disease: Pancreatitis, Chronic
Pancreatitis, Chronic 		Digestive System Diseases 0.010 1.000 1 2011 2011
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
dbSNP: rs8898
rs8898 		0.925 0.120 8 11845033 3 prime UTR variant T/C snv 0.37
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma 		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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 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: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth 		Neoplasms; Stomatognathic Diseases 0.010 1.000 1 2012 2012
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: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.020 1.000 2 2010 2014