EPCAM, epithelial cell adhesion molecule, 4072

N. diseases: 328; N. variants: 16
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: rs267606785
rs267606785 		1.000 0.120 2 47373820 missense variant G/A snv
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases 0.800 0
dbSNP: rs376155665
rs376155665 		0.925 0.200 2 47378939 intron variant A/C;G;T snv 4.0E-06; 7.6E-05; 4.0E-06; 8.0E-06
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 1.000 3 2013 2017
dbSNP: rs606231203
rs606231203 		1.000 0.120 2 47375300 splice donor variant G/A;T snv 5.6E-05; 4.0E-06
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 3 2008 2013
dbSNP: rs878854488
rs878854488 		1.000 0.120 2 47375237 stop gained G/A snv 8.0E-06
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 1.000 1 2014 2014
dbSNP: rs1553342984
rs1553342984 		1.000 0.120 2 47373996 frameshift variant -/C ins
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1558438591
rs1558438591 		2 47379820 frameshift variant G/- delins
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs376155665
rs376155665 		0.925 0.200 2 47378939 intron variant A/C;G;T snv 4.0E-06; 7.6E-05; 4.0E-06; 8.0E-06
CUI: C2750471
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8
COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 8 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs376155665
rs376155665 		0.925 0.200 2 47378939 intron variant A/C;G;T snv 4.0E-06; 7.6E-05; 4.0E-06; 8.0E-06
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs397514661
rs397514661 		1.000 0.120 2 47374035 stop gained C/A;T snv 4.0E-06; 4.0E-06
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs606231204
rs606231204 		1.000 0.120 2 47377020 frameshift variant -/C delins
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs606231281
rs606231281 		1.000 0.120 2 47377012 splice acceptor variant A/G snv
CUI: C2750737
Disease: DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL
DIARRHEA 5, WITH TUFTING ENTEROPATHY, CONGENITAL 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs863224453
rs863224453 		1.000 0.160 2 47385165 splice acceptor variant G/A snv
CUI: C1333990
Disease: Hereditary Nonpolyposis Colorectal Cancer
Hereditary Nonpolyposis Colorectal Cancer 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs878854485
rs878854485 		2 47373519 stop gained C/T snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs878854491
rs878854491 		2 47377045 stop gained C/T snv 7.0E-06
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs878854496
rs878854496 		2 47386570 splice acceptor variant A/G snv
CUI: C0009405
Disease: Hereditary Nonpolyposis Colorectal Neoplasms
Hereditary Nonpolyposis Colorectal Neoplasms 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms; Nutritional and Metabolic Diseases 0.700 0
dbSNP: rs1126497
rs1126497 		0.716 0.200 2 47373967 missense variant T/C snv 0.51 0.58
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs1126497
rs1126497 		0.716 0.200 2 47373967 missense variant T/C snv 0.51 0.58
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: rs1126497
rs1126497 		0.716 0.200 2 47373967 missense variant T/C snv 0.51 0.58
CUI: C4525302
Disease: Stage III Gallbladder Cancer AJCC v8
Stage III Gallbladder Cancer AJCC v8 		0.010 1.000 1 2016 2016
dbSNP: rs1126497
rs1126497 		0.716 0.200 2 47373967 missense variant T/C snv 0.51 0.58
CUI: C4525300
Disease: Stage IIA Gallbladder Cancer AJCC v8
Stage IIA Gallbladder Cancer AJCC v8 		0.010 1.000 1 2016 2016
dbSNP: rs1126497
rs1126497 		0.716 0.200 2 47373967 missense variant T/C snv 0.51 0.58
CUI: C0153452
Disease: Malignant neoplasm of gallbladder
Malignant neoplasm of gallbladder 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs1126497
rs1126497 		0.716 0.200 2 47373967 missense variant T/C snv 0.51 0.58
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs1126497
rs1126497 		0.716 0.200 2 47373967 missense variant T/C snv 0.51 0.58
CUI: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs1126497
rs1126497 		0.716 0.200 2 47373967 missense variant T/C snv 0.51 0.58
CUI: C4525305
Disease: Stage IV Gallbladder Cancer AJCC v8
Stage IV Gallbladder Cancer AJCC v8 		0.010 1.000 1 2016 2016
dbSNP: rs1126497
rs1126497 		0.716 0.200 2 47373967 missense variant T/C snv 0.51 0.58
CUI: C0007847
Disease: Malignant tumor of cervix
Malignant tumor of cervix 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs1126497
rs1126497 		0.716 0.200 2 47373967 missense variant T/C snv 0.51 0.58
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2011 2011