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: 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
dbSNP: rs1454328441
rs1454328441 		0.827 0.200 1 155192002 missense variant G/A;T snv 4.6E-06; 9.1E-06
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1454328441
rs1454328441 		0.827 0.200 1 155192002 missense variant G/A;T snv 4.6E-06; 9.1E-06
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1454328441
rs1454328441 		0.827 0.200 1 155192002 missense variant G/A;T snv 4.6E-06; 9.1E-06
CUI: C0001418
Disease: Adenocarcinoma
Adenocarcinoma 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs1454328441
rs1454328441 		0.827 0.200 1 155192002 missense variant G/A;T snv 4.6E-06; 9.1E-06
CUI: C0149925
Disease: Small cell carcinoma of lung
Small cell carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2010 2010
dbSNP: rs1454328441
rs1454328441 		0.827 0.200 1 155192002 missense variant G/A;T snv 4.6E-06; 9.1E-06
CUI: C0262401
Disease: Carcinoma of ampulla of Vater
Carcinoma of ampulla of Vater 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs1464894231
rs1464894231 		1 155187294 missense variant C/T snv 4.0E-06
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs1474676145
rs1474676145 		1.000 1 155192042 synonymous variant C/G;T snv
CUI: C4020705
Disease: Glomerulocystic kidney disease
Glomerulocystic kidney disease 		0.010 1.000 1 2005 2005
dbSNP: rs191544901
rs191544901 		0.925 0.240 1 155187241 missense variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C1832661
Disease: ANOPHTHALMIA AND PULMONARY HYPOPLASIA
ANOPHTHALMIA AND PULMONARY HYPOPLASIA 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs191544901
rs191544901 		0.925 0.240 1 155187241 missense variant C/A;T snv 4.0E-06; 8.0E-06
CUI: C4511687
Disease: Pancreatic Intraductal Papillary Mucinous Neoplasm
Pancreatic Intraductal Papillary Mucinous Neoplasm 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs375294990
rs375294990 		1.000 0.080 1 155192150 missense variant G/C snv 8.0E-06 5.6E-05
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: rs4072037
rs4072037 		0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs4072037
rs4072037 		0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs4072037
rs4072037 		0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder) 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs4072037
rs4072037 		0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs4072037
rs4072037 		0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59
CUI: C0206062
Disease: Lung Diseases, Interstitial
Lung Diseases, Interstitial 		Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs4072037
rs4072037 		0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59
CUI: C0034050
Disease: Pulmonary Alveolar Proteinosis
Pulmonary Alveolar Proteinosis 		Respiratory Tract Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4072037
rs4072037 		0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59
CUI: C0017152
Disease: Gastritis
Gastritis 		Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs4072037
rs4072037 		0.732 0.240 1 155192276 splice acceptor variant C/A;T snv 0.59
CUI: C0334037
Disease: Intestinal metaplasia
Intestinal metaplasia 		0.010 1.000 1 2017 2017