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: rs838880
rs838880 		12 124777047 3 prime UTR variant C/T snv 0.55
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 4 2010 2019
dbSNP: rs838880
rs838880 		12 124777047 3 prime UTR variant C/T snv 0.55
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 2 2010 2013
dbSNP: rs838880
rs838880 		12 124777047 3 prime UTR variant C/T snv 0.55
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2018 2018
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: 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: rs12580323
rs12580323 		12 124795115 intron variant C/T snv 1.5E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12580323
rs12580323 		12 124795115 intron variant C/T snv 1.5E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12819677
rs12819677 		12 124798975 intron variant C/G;T snv
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs12819677
rs12819677 		12 124798975 intron variant C/G;T snv
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10773105
rs10773105 		12 124799220 intron variant C/T snv 0.63
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 2 2012 2019
dbSNP: rs10773105
rs10773105 		12 124799220 intron variant C/T snv 0.63
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 1 2012 2012
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
dbSNP: rs74830677
rs74830677 		0.882 0.080 12 124800125 missense variant G/A snv 9.9E-04 6.7E-04
CUI: C0011847
Disease: Diabetes
Diabetes 		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: C1853096
Disease: HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6
HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 		0.700 0
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: 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: 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