MUC4, mucin 4, cell surface associated, 4585

N. diseases: 155; N. variants: 17
Source: BEFREE ×
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: rs762581936
rs762581936 		0.827 0.240 3 195788569 missense variant C/G;T snv 1.1E-05; 1.1E-05
CUI: C0235974
Disease: Pancreatic carcinoma
Pancreatic carcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.020 1.000 2 2012 2015
dbSNP: rs762581936
rs762581936 		0.827 0.240 3 195788569 missense variant C/G;T snv 1.1E-05; 1.1E-05
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: rs1104760
rs1104760 		1.000 0.040 3 195790450 missense variant G/A;T snv 0.78; 2.8E-05
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
dbSNP: rs1452975937
rs1452975937 		0.925 0.040 3 195790889 missense variant C/T snv 4.0E-06
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1452975937
rs1452975937 		0.925 0.040 3 195790889 missense variant C/T snv 4.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2246901
rs2246901 		0.882 0.080 3 195762138 missense variant C/A;T snv 0.67
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2246901
rs2246901 		0.882 0.080 3 195762138 missense variant C/A;T snv 0.67
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs2246901
rs2246901 		0.882 0.080 3 195762138 missense variant C/A;T snv 0.67
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
dbSNP: rs2258447
rs2258447 		1.000 0.040 3 195752385 missense variant T/A;C snv 0.89
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
dbSNP: rs2550236
rs2550236 		0.882 0.080 3 195795450 intron variant A/G;T snv
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2550236
rs2550236 		0.882 0.080 3 195795450 intron variant A/G;T snv
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2550236
rs2550236 		0.882 0.080 3 195795450 intron variant A/G;T snv
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2688513
rs2688513 		1.000 0.040 3 195778793 missense variant G/A;C;T snv 0.79; 4.5E-06
CUI: C0014175
Disease: Endometriosis
Endometriosis 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2011 2011
dbSNP: rs2688515
rs2688515 		0.882 0.080 3 195800600 intron variant C/G;T snv 0.50
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2688515
rs2688515 		0.882 0.080 3 195800600 intron variant C/G;T snv 0.50
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2688515
rs2688515 		0.882 0.080 3 195800600 intron variant C/G;T snv 0.50
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3096337
rs3096337 		0.882 0.080 3 195806461 intron variant C/T snv 0.82
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3096337
rs3096337 		0.882 0.080 3 195806461 intron variant C/T snv 0.82
CUI: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs3096337
rs3096337 		0.882 0.080 3 195806461 intron variant C/T snv 0.82
CUI: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs747405414
rs747405414 		0.925 0.040 3 195762190 missense variant G/T snv 7.0E-06
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs747405414
rs747405414 		0.925 0.040 3 195762190 missense variant G/T snv 7.0E-06
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis 		Digestive System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs762581936
rs762581936 		0.827 0.240 3 195788569 missense variant C/G;T snv 1.1E-05; 1.1E-05
CUI: C1335302
Disease: Pancreatic Ductal Adenocarcinoma
Pancreatic Ductal Adenocarcinoma 		Digestive System Diseases; Neoplasms; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs762581936
rs762581936 		0.827 0.240 3 195788569 missense variant C/G;T snv 1.1E-05; 1.1E-05
CUI: C1301034
Disease: Pancreatic intraepithelial neoplasia
Pancreatic intraepithelial neoplasia 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs762581936
rs762581936 		0.827 0.240 3 195788569 missense variant C/G;T snv 1.1E-05; 1.1E-05
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 2012 2012
dbSNP: rs779610458
rs779610458 		0.925 0.080 3 195760923 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017