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: 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: 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: C0242383
Disease: Age related macular degeneration
Age related macular degeneration 		Eye Diseases 0.020 1.000 2 2009 2017
dbSNP: rs10846744
rs10846744 		0.763 0.160 12 124827879 intron variant G/C snv 0.32
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.040 0.750 4 2010 2018
dbSNP: rs10846744
rs10846744 		0.763 0.160 12 124827879 intron variant G/C snv 0.32
CUI: C0004153
Disease: Atherosclerosis
Atherosclerosis 		Cardiovascular Diseases 0.040 0.750 4 2010 2018
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: rs10846744
rs10846744 		0.763 0.160 12 124827879 intron variant G/C snv 0.32
CUI: C3266262
Disease: Multiple Chronic Conditions
Multiple Chronic Conditions 		Pathological Conditions, Signs and Symptoms 0.030 1.000 3 2010 2018
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: rs4765623
rs4765623 		0.925 0.120 12 124836304 intron variant C/T snv 0.38
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.810 1.000 3 2011 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: rs10773112
rs10773112 		12 124853983 intron variant C/T snv 0.63
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 3 2012 2019
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: 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: 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: rs10773112
rs10773112 		12 124853983 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: rs10846743
rs10846743 		12 124825759 intron variant G/A snv 3.1E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.700 1.000 1 2012 2012
dbSNP: rs10846743
rs10846743 		12 124825759 intron variant G/A snv 3.1E-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: 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: 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