GPC1, glypican 1, 2817

N. diseases: 96; N. variants: 3
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: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.030 1.000 3 2012 2019
dbSNP: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.030 1.000 3 2016 2019
dbSNP: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.020 1.000 2 2009 2019
dbSNP: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs71428439
rs71428439 		0.827 0.200 2 240456083 non coding transcript exon variant A/G snv 0.11 0.13
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C4520983
Disease: Congenital atresia of extrahepatic bile duct
Congenital atresia of extrahepatic bile duct 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3828336
rs3828336 		0.925 0.080 2 240451099 non coding transcript exon variant C/G;T snv 0.26
CUI: C0005411
Disease: Biliary Atresia
Biliary Atresia 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs3828336
rs3828336 		0.925 0.080 2 240451099 non coding transcript exon variant C/G;T snv 0.26
CUI: C4520983
Disease: Congenital atresia of extrahepatic bile duct
Congenital atresia of extrahepatic bile duct 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2016 2016
dbSNP: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C0270911
Disease: Charcot-Marie-Tooth Disease, Type Ia (disorder)
Charcot-Marie-Tooth Disease, Type Ia (disorder) 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.020 1.000 2 2016 2019
dbSNP: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		Digestive System Diseases; Infections 0.020 1.000 2 2015 2017
dbSNP: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.080 1.000 8 2012 2019
dbSNP: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		Digestive System Diseases; Neoplasms 0.080 0.875 8 2013 2019
dbSNP: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.040 0.750 4 2014 2018
dbSNP: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.040 0.750 4 2014 2018
dbSNP: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C0685938
Disease: Malignant neoplasm of gastrointestinal tract
Malignant neoplasm of gastrointestinal tract 		Digestive System Diseases; Neoplasms 0.030 1.000 3 2012 2019
dbSNP: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C0021053
Disease: Immune System Diseases
Immune System Diseases 		Immune System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.100 0.545 11 2011 2019
dbSNP: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.100 0.545 11 2011 2019
dbSNP: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C1168401
Disease: Squamous cell carcinoma of the head and neck
Squamous cell carcinoma of the head and neck 		Neoplasms 0.010 1.000 1 2010 2010
dbSNP: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C0086692
Disease: Benign Neoplasm
Benign Neoplasm 		Neoplasms 0.010 1.000 1 2014 2014
dbSNP: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C3887461
Disease: Head and Neck Carcinoma
Head and Neck Carcinoma 		Neoplasms 0.010 < 0.001 1 2015 2015