SCARB1, scavenger receptor class B member 1, 949

N. diseases: 116; N. variants: 34
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: rs10846744
rs10846744 		0.763 0.160 12 124827879 intron variant G/C snv 0.32
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		Nutritional and Metabolic Diseases 0.020 1.000 2 2016 2017
dbSNP: rs10846744
rs10846744 		0.763 0.160 12 124827879 intron variant G/C snv 0.32
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.020 0.500 2 2012 2018
dbSNP: rs10846744
rs10846744 		0.763 0.160 12 124827879 intron variant G/C snv 0.32
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.020 1.000 2 2012 2018
dbSNP: rs5888
rs5888 		0.752 0.200 12 124800202 synonymous variant A/G;T snv 0.59; 4.0E-06
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.020 1.000 2 2009 2017
dbSNP: rs5888
rs5888 		0.752 0.200 12 124800202 synonymous variant A/G;T snv 0.59; 4.0E-06
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.020 1.000 2 2013 2018
dbSNP: rs74830677
rs74830677 		0.882 0.080 12 124800125 missense variant G/A snv 9.9E-04 6.7E-04
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.020 1.000 2 2017 2019
dbSNP: rs10744182
rs10744182 		1.000 0.040 12 124833036 intron variant C/T snv 0.49
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs10846744
rs10846744 		0.763 0.160 12 124827879 intron variant G/C snv 0.32
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs10846744
rs10846744 		0.763 0.160 12 124827879 intron variant G/C snv 0.32
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs10846744
rs10846744 		0.763 0.160 12 124827879 intron variant G/C snv 0.32
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs11057830
rs11057830 		0.851 0.040 12 124822507 intron variant G/A snv 0.15
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2019 2019
dbSNP: rs2278986
rs2278986 		0.925 0.120 12 124814823 intron variant A/G snv 0.28
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2278986
rs2278986 		0.925 0.120 12 124814823 intron variant A/G snv 0.28
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs3782287
rs3782287 		1.000 0.040 12 124804719 intron variant G/A snv 0.41
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs4238001
rs4238001 		0.882 0.040 12 124863717 missense variant C/T snv 0.10 8.6E-02
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4238001
rs4238001 		0.882 0.040 12 124863717 missense variant C/T snv 0.10 8.6E-02
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4238001
rs4238001 		0.882 0.040 12 124863717 missense variant C/T snv 0.10 8.6E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs4765623
rs4765623 		0.925 0.120 12 124836304 intron variant C/T snv 0.38
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 2012 2012
dbSNP: rs5888
rs5888 		0.752 0.200 12 124800202 synonymous variant A/G;T snv 0.59; 4.0E-06
CUI: C1861453
Disease: Pseudohyperkalemia Cardiff
Pseudohyperkalemia Cardiff 		Nutritional and Metabolic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs5888
rs5888 		0.752 0.200 12 124800202 synonymous variant A/G;T snv 0.59; 4.0E-06
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs5888
rs5888 		0.752 0.200 12 124800202 synonymous variant A/G;T snv 0.59; 4.0E-06
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs5888
rs5888 		0.752 0.200 12 124800202 synonymous variant A/G;T snv 0.59; 4.0E-06
CUI: C0007785
Disease: Cerebral Infarction
Cerebral Infarction 		Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Cardiovascular Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs5888
rs5888 		0.752 0.200 12 124800202 synonymous variant A/G;T snv 0.59; 4.0E-06
CUI: C1867743
Disease: Premature coronary artery atherosclerosis
Premature coronary artery atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs5888
rs5888 		0.752 0.200 12 124800202 synonymous variant A/G;T snv 0.59; 4.0E-06
CUI: C3160761
Disease: Diabetic dyslipidaemia
Diabetic dyslipidaemia 		0.010 1.000 1 2017 2017
dbSNP: rs5888
rs5888 		0.752 0.200 12 124800202 synonymous variant A/G;T snv 0.59; 4.0E-06
CUI: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013