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: 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: 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: 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: 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
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
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: 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: 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: 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: 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: 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: C0948008
Disease: Ischemic stroke
Ischemic stroke
Nervous System Diseases; Cardiovascular Diseases 0.020 0.500 2 2018 2018
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
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: 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: 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: 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: 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: 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