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: rs5355
rs5355
0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis
Cardiovascular Diseases 0.020 1.000 2 1999 2019
dbSNP: rs5355
rs5355
0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 0.500 2 2006 2014
dbSNP: rs5355
rs5355
0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02
CUI: C0577631
Disease: Carotid Atherosclerosis
Carotid Atherosclerosis
Nervous System Diseases; Cardiovascular Diseases 0.020 1.000 2 2006 2014
dbSNP: rs5355
rs5355
0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.020 0.500 2 2006 2014
dbSNP: rs5355
rs5355
0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension
Cardiovascular Diseases 0.020 1.000 2 2012 2018
dbSNP: rs5355
rs5355
0.742 0.240 1 169726729 missense variant G/A snv 4.5E-02 3.3E-02
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis
Cardiovascular Diseases 0.020 1.000 2 1999 2019
dbSNP: rs5361
rs5361
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
Pathological Conditions, Signs and Symptoms; Neoplasms 0.020 1.000 2 2007 2009
dbSNP: rs5361
rs5361
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
Neoplasms 0.020 0.500 2 2010 2014
dbSNP: rs5361
rs5361
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 0.500 2 2003 2007
dbSNP: rs5361
rs5361
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms
Neoplasms 0.020 0.500 2 2010 2014
dbSNP: rs5361
rs5361
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2013 2016
dbSNP: rs5361
rs5361
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
Neoplasms; Skin and Connective Tissue Diseases 0.020 1.000 2 2013 2016
dbSNP: rs5361
rs5361
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach
Digestive System Diseases; Neoplasms 0.020 1.000 2 2012 2013
dbSNP: rs5361
rs5361
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0011847
Disease: Diabetes
Diabetes
Endocrine System Diseases 0.020 1.000 2 2005 2009
dbSNP: rs5361
rs5361
0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma
Digestive System Diseases; Neoplasms 0.020 1.000 2 2012 2013
dbSNP: rs10489177
rs10489177
0.925 0.120 1 169793666 missense variant T/A;G snv 4.1E-06; 0.19
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke
Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10489177
rs10489177
0.925 0.120 1 169793666 missense variant T/A;G snv 4.1E-06; 0.19
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10489177
rs10489177
0.925 0.120 1 169793666 missense variant T/A;G snv 4.1E-06; 0.19
CUI: C0011847
Disease: Diabetes
Diabetes
Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs10489177
rs10489177
0.925 0.120 1 169793666 missense variant T/A;G snv 4.1E-06; 0.19
CUI: C0020538
Disease: Hypertensive disease
Hypertensive disease
Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1131498
rs1131498
0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction
Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1131498
rs1131498
0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22
CUI: C0009324
Disease: Ulcerative Colitis
Ulcerative Colitis
Digestive System Diseases 0.010 1.000 1 2009 2009
dbSNP: rs1131498
rs1131498
0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1131498
rs1131498
0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22
Diabetes Mellitus, Insulin-Dependent
Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases 0.010 1.000 1 2000 2000
dbSNP: rs1131498
rs1131498
0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis
Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1131498
rs1131498
0.732 0.360 1 169707345 missense variant A/G snv 0.21 0.22
CUI: C0031099
Disease: Periodontitis
Periodontitis
Stomatognathic Diseases 0.010 1.000 1 2009 2009