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: rs865716
rs865716 		12 124806310 intron variant A/T snv 0.58
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs865716
rs865716 		12 124806310 intron variant A/T snv 0.58
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs187831231
rs187831231 		12 124814309 missense variant T/C snv 1.1E-04 2.0E-04
CUI: C1853096
Disease: HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 		0.700 0
dbSNP: rs387906791
rs387906791 		12 124807881 missense variant G/A snv 8.0E-06 6.3E-05
CUI: C1853096
Disease: HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 		0.700 0
dbSNP: rs397514572
rs397514572 		12 124815064 missense variant G/A snv
CUI: C1853096
Disease: HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 		0.700 0
dbSNP: rs11057830
rs11057830 		0.851 0.040 12 124822507 intron variant G/A snv 0.15
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.710 1.000 3 2017 2019
dbSNP: rs11057830
rs11057830 		0.851 0.040 12 124822507 intron variant G/A snv 0.15
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.710 1.000 2 2017 2019
dbSNP: rs10128951
rs10128951 		1.000 0.040 12 124855901 intron variant G/A snv 0.47
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
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: rs11057830
rs11057830 		0.851 0.040 12 124822507 intron variant G/A snv 0.15
CUI: C1142098
Disease: Vitamin E Assay
Vitamin E Assay 		0.800 1.000 1 2011 2011
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: rs11057830
rs11057830 		0.851 0.040 12 124822507 intron variant G/A snv 0.15
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs11057840
rs11057840 		1.000 0.040 12 124831509 intron variant A/C snv 0.16
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs11057841
rs11057841 		1.000 0.040 12 124832197 intron variant C/T snv 0.18
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.700 1.000 1 2013 2013
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: rs5891
rs5891 		1.000 0.040 12 124814996 missense variant C/T snv 1.2E-02 1.1E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs61941676
rs61941676 		1.000 0.040 12 124840252 intron variant C/A snv 8.7E-02
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs838893
rs838893 		1.000 0.040 12 124784929 non coding transcript exon variant T/C snv 0.64
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
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: rs74830677
rs74830677 		0.882 0.080 12 124800125 missense variant G/A snv 9.9E-04 6.7E-04
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs74830677
rs74830677 		0.882 0.080 12 124800125 missense variant G/A snv 9.9E-04 6.7E-04
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs74830677
rs74830677 		0.882 0.080 12 124800125 missense variant G/A snv 9.9E-04 6.7E-04
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.010 1.000 1 2016 2016