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: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic 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: C0003165
Disease: Anthracosis
Anthracosis 		Respiratory Tract Diseases 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: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.020 1.000 2 2011 2017
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: 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: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.050 0.600 5 2012 2016
dbSNP: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis 		Pathological Conditions, Signs and Symptoms; 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: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014
dbSNP: rs71428439
rs71428439 		0.827 0.200 2 240456083 non coding transcript exon variant A/G snv 0.11 0.13
CUI: C0684249
Disease: Carcinoma of lung
Carcinoma of lung 		Neoplasms; Respiratory Tract 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: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2017 2020
dbSNP: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C4048328
Disease: cervical cancer
cervical cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 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: C0302592
Disease: Cervix carcinoma
Cervix carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications 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: 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: 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: C1623038
Disease: Cirrhosis
Cirrhosis 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2017 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: 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: 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: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 2014
dbSNP: rs71428439
rs71428439 		0.827 0.200 2 240456083 non coding transcript exon variant A/G snv 0.11 0.13
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		Neoplasms; 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: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular 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: 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: 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