MUC1, mucin 1, cell surface associated, 4582

N. diseases: 594; N. variants: 18
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: rs4072037
rs4072037 		0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.800 1.000 20 2010 2018
dbSNP: rs4072037
rs4072037 		0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59
CUI: C0373675
Disease: Magnesium measurement
Magnesium measurement 		0.800 1.000 2 2010 2015
dbSNP: rs4072037
rs4072037 		0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59
CUI: C0202239
Disease: Uric acid measurement (procedure)
Uric acid measurement (procedure) 		0.700 1.000 2 2018 2019
dbSNP: rs4072037
rs4072037 		0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59
CUI: C0428883
Disease: Diastolic blood pressure
Diastolic blood pressure 		0.700 1.000 1 2018 2018
dbSNP: rs4072037
rs4072037 		0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59
CUI: C0003868
Disease: Arthritis, Gouty
Arthritis, Gouty 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs4072037
rs4072037 		0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2010 2010
dbSNP: rs4072037
rs4072037 		0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59
CUI: C0018099
Disease: Gout
Gout 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs4072037
rs4072037 		0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.100 1.000 16 2011 2018
dbSNP: rs4072037
rs4072037 		0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.030 1.000 3 2014 2018
dbSNP: rs4072037
rs4072037 		0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.030 1.000 3 2014 2018
dbSNP: rs1037189404
rs1037189404 		0.776 0.280 1 155187519 missense variant C/T snv
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.020 1.000 2 2012 2015
dbSNP: rs1037189404
rs1037189404 		0.776 0.280 1 155187519 missense variant C/T snv
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.020 1.000 2 2012 2015
dbSNP: rs1037189404
rs1037189404 		0.776 0.280 1 155187519 missense variant C/T snv
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.020 1.000 2 2012 2013
dbSNP: rs4072037
rs4072037 		0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.020 1.000 2 2014 2018
dbSNP: rs4072037
rs4072037 		0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.020 0.500 2 2012 2015
dbSNP: rs766333007
rs766333007 		0.776 0.280 1 155192274 missense variant C/T snv 7.0E-06
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.020 1.000 2 2012 2015
dbSNP: rs766333007
rs766333007 		0.776 0.280 1 155192274 missense variant C/T snv 7.0E-06
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.020 1.000 2 2012 2013
dbSNP: rs766333007
rs766333007 		0.776 0.280 1 155192274 missense variant C/T snv 7.0E-06
CUI: C0346647
Disease: Malignant neoplasm of pancreas
Malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.020 1.000 2 2012 2015
dbSNP: rs1037189404
rs1037189404 		0.776 0.280 1 155187519 missense variant C/T snv
CUI: C0476073
Disease: Papillary neoplasm
Papillary neoplasm 		Neoplasms 0.010 1.000 1 2007 2007
dbSNP: rs1037189404
rs1037189404 		0.776 0.280 1 155187519 missense variant C/T snv
CUI: C0346976
Disease: Secondary malignant neoplasm of pancreas
Secondary malignant neoplasm of pancreas 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2007 2007
dbSNP: rs1037189404
rs1037189404 		0.776 0.280 1 155187519 missense variant C/T snv
CUI: C1301034
Disease: Pancreatic intraepithelial neoplasia
Pancreatic intraepithelial neoplasia 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1037189404
rs1037189404 		0.776 0.280 1 155187519 missense variant C/T snv
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs1037189404
rs1037189404 		0.776 0.280 1 155187519 missense variant C/T snv
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2010 2010
dbSNP: rs1252688154
rs1252688154 		1.000 0.080 1 155187520 missense variant C/T snv 4.0E-06
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1454328441
rs1454328441 		0.827 0.200 1 155192002 missense variant G/A;T snv 4.6E-06; 9.1E-06
CUI: C1332243
Disease: Adenocarcinoma of ampulla of Vater
Adenocarcinoma of ampulla of Vater 		Neoplasms 0.010 1.000 1 2019 2019