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: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0037284
Disease: Skin lesion
Skin lesion 		Skin and Connective Tissue Diseases 0.010 1.000 1 2010 2010
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.020 1.000 2 2004 2012
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2005 2012
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2005 2012
dbSNP: rs3093030
rs3093030 		0.925 0.120 19 10286727 non coding transcript exon variant C/T snv 0.34
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs5030383
rs5030383 		19 10286167 3 prime UTR variant C/A;T snv
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0677607
Disease: Hashimoto Disease
Hashimoto Disease 		Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
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 2012 2012
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2012 2012
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0024623
Disease: Malignant neoplasm of stomach
Malignant neoplasm of stomach 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0018213
Disease: Graves Disease
Graves Disease 		Eye Diseases; Immune System Diseases; Endocrine System Diseases 0.020 < 0.001 2 2007 2013
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0867389
Disease: Chronic graft-versus-host disease
Chronic graft-versus-host disease 		Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 < 0.001 1 2013 2013
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0153633
Disease: Malignant neoplasm of brain
Malignant neoplasm of brain 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.030 1.000 3 2006 2014
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0338437
Disease: Neurocysticercosis
Neurocysticercosis 		Infections; Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0149931
Disease: Migraine Disorders
Migraine Disorders 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0338480
Disease: Common Migraine
Common Migraine 		Nervous System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0677886
Disease: Epithelial ovarian cancer
Epithelial ovarian cancer 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs5498
rs5498 		0.531 0.760 19 10285007 missense variant A/G snv 0.44 0.37
CUI: C0021390
Disease: Inflammatory Bowel Diseases
Inflammatory Bowel Diseases 		Digestive System Diseases 0.060 1.000 6 2003 2015