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: rs7137923
rs7137923 		12 124822302 intron variant G/T snv 3.1E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7137923
rs7137923 		12 124822302 intron variant G/T snv 3.1E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
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: rs5888
rs5888 		0.752 0.200 12 124800202 synonymous variant A/G;T snv 0.59; 4.0E-06
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.030 1.000 3 2013 2018
dbSNP: rs5888
rs5888 		0.752 0.200 12 124800202 synonymous variant A/G;T snv 0.59; 4.0E-06
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.030 0.333 3 2013 2018
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: 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: 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: C0020443
Disease: Hypercholesterolemia
Hypercholesterolemia 		Nutritional and Metabolic Diseases 0.010 1.000 1 2013 2013
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: rs838886
rs838886 		12 124779741 intron variant T/A;G snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2015 2015
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: rs11057864
rs11057864 		0.925 0.160 12 124851404 intron variant C/A snv 6.5E-02
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11057864
rs11057864 		0.925 0.160 12 124851404 intron variant C/A snv 6.5E-02
CUI: C0024143
Disease: Lupus Nephritis
Lupus Nephritis 		Female Urogenital Diseases and Pregnancy Complications; Skin and Connective Tissue Diseases; Male Urogenital Diseases; Immune System Diseases 0.700 1.000 1 2016 2016
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: 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: C1867743
Disease: Premature coronary artery atherosclerosis
Premature coronary artery atherosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
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
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: rs10846744
rs10846744 		0.763 0.160 12 124827879 intron variant G/C snv 0.32
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.020 1.000 2 2017 2018
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