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: 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: 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: 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: 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: 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: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.020 1.000 2 2011 2013
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: 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: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		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: 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: 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: 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: C0280217
Disease: stage, non-small cell lung cancer
stage, non-small cell lung cancer 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2292832
rs2292832 		0.605 0.640 2 240456086 non coding transcript exon variant T/A;C snv 0.59
CUI: C0280313
Disease: Squamous cell carcinoma of oropharynx
Squamous cell carcinoma of oropharynx 		Neoplasms; Stomatognathic Diseases; Otorhinolaryngologic Diseases 0.010 1.000 1 2013 2013
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: 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: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		Neoplasms; Endocrine System 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: 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: C0242379
Disease: Malignant neoplasm of lung
Malignant neoplasm of lung 		Neoplasms; Respiratory Tract 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: 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: C0007134
Disease: Renal Cell Carcinoma
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: 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: C1306460
Disease: Primary malignant neoplasm of lung
Primary malignant neoplasm of lung 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2014 2014