SAA1, serum amyloid A1, 6288

N. diseases: 188; N. variants: 6
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: rs183978373
rs183978373 		11 18268811 intron variant C/A;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs35179000
rs35179000 		11 18269356 3 prime UTR variant T/C snv 0.65 0.69
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs12218
rs12218 		0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.020 1.000 2 2013 2019
dbSNP: rs10832915
rs10832915 		1.000 0.080 11 18269516 intron variant T/C;G snv
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		Nutritional and Metabolic Diseases; Musculoskeletal Diseases 0.010 1.000 1 2019 2019
dbSNP: rs12218
rs12218 		0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs12218
rs12218 		0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36
CUI: C1704436
Disease: Peripheral Arterial Diseases
Peripheral Arterial Diseases 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs12218
rs12218 		0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36
CUI: C0085253
Disease: Adult-Onset Still Disease
Adult-Onset Still Disease 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs12218
rs12218 		0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36
CUI: C0038013
Disease: Ankylosing spondylitis
Ankylosing spondylitis 		Musculoskeletal Diseases 0.010 1.000 1 2015 2015
dbSNP: rs12218
rs12218 		0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36
CUI: C0002726
Disease: Amyloidosis
Amyloidosis 		Nutritional and Metabolic Diseases 0.010 1.000 1 2015 2015
dbSNP: rs12218
rs12218 		0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36
CUI: C0085096
Disease: Peripheral Vascular Diseases
Peripheral Vascular Diseases 		Cardiovascular Diseases 0.010 1.000 1 2011 2011
dbSNP: rs12218
rs12218 		0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12218
rs12218 		0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36
CUI: C0740394
Disease: Hyperuricemia
Hyperuricemia 		Pathological Conditions, Signs and Symptoms 0.010 1.000 1 2012 2012
dbSNP: rs12218
rs12218 		0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs12218
rs12218 		0.763 0.280 11 18269774 synonymous variant T/C snv 0.42 0.36
CUI: C4699512
Disease: Large-artery atherosclerosis (embolus/thrombosis)
Large-artery atherosclerosis (embolus/thrombosis) 		0.010 1.000 1 2017 2017
dbSNP: rs4638289
rs4638289 		1.000 0.080 11 18264227 upstream gene variant A/T snv 0.67
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs4638289
rs4638289 		1.000 0.080 11 18264227 upstream gene variant A/T snv 0.67
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 < 0.001 1 2009 2009
dbSNP: rs79681911
rs79681911 		0.882 0.040 11 18269755 missense variant G/A snv 2.1E-03 8.0E-04
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs79681911
rs79681911 		0.882 0.040 11 18269755 missense variant G/A snv 2.1E-03 8.0E-04
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs79681911
rs79681911 		0.882 0.040 11 18269755 missense variant G/A snv 2.1E-03 8.0E-04
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2013 2013