CD36, CD36 molecule, 948

N. diseases: 351; N. variants: 61
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: rs75326924
rs75326924 		0.882 0.120 7 80656687 missense variant C/T snv 1.1E-03 1.0E-04
CUI: C1842090
Disease: Platelet Glycoprotein IV Deficiency
Platelet Glycoprotein IV Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 5 1993 2002
dbSNP: rs3211938
rs3211938 		0.882 0.200 7 80671133 stop gained T/G snv 6.2E-03 2.6E-02
CUI: C0392885
Disease: High density lipoprotein measurement
High density lipoprotein measurement 		0.800 1.000 4 2012 2019
dbSNP: rs121918035
rs121918035 		1.000 0.080 7 80673392 missense variant A/C;G snv 2.6E-04; 4.0E-06; 9.6E-05 7.0E-06
CUI: C1842090
Disease: Platelet Glycoprotein IV Deficiency
Platelet Glycoprotein IV Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 2 1995 2002
dbSNP: rs142186404
rs142186404 		1.000 0.080 7 80669964 missense variant T/C;G snv 6.0E-05; 3.2E-05
CUI: C1842090
Disease: Platelet Glycoprotein IV Deficiency
Platelet Glycoprotein IV Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.800 1.000 2 1995 2002
dbSNP: rs75326924
rs75326924 		0.882 0.120 7 80656687 missense variant C/T snv 1.1E-03 1.0E-04
CUI: C0005818
Disease: Blood Platelet Disorders
Blood Platelet Disorders 		Hemic and Lymphatic Diseases 0.700 1.000 9 1995 2015
dbSNP: rs572295823
rs572295823 		1.000 0.080 7 80661110 frameshift variant CA/- delins 1.2E-03 2.8E-04
CUI: C1842090
Disease: Platelet Glycoprotein IV Deficiency
Platelet Glycoprotein IV Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 6 1994 2015
dbSNP: rs550565800
rs550565800 		1.000 0.080 7 80673382 inframe insertion ATTGTGCCTATT/-;ATTGTGCCTATTGTGCCTATT delins 3.2E-04
CUI: C1842090
Disease: Platelet Glycoprotein IV Deficiency
Platelet Glycoprotein IV Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 5 2001 2016
dbSNP: rs148910227
rs148910227 		1.000 0.080 7 80672800 missense variant C/G;T snv 4.0E-06; 5.5E-04
CUI: C1842090
Disease: Platelet Glycoprotein IV Deficiency
Platelet Glycoprotein IV Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 3 2006 2015
dbSNP: rs13236689
rs13236689 		7 80606698 intron variant T/G snv 0.44
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 2 2012 2019
dbSNP: rs3211938
rs3211938 		0.882 0.200 7 80671133 stop gained T/G snv 6.2E-03 2.6E-02
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement 		0.700 1.000 2 2012 2012
dbSNP: rs70961716
rs70961716 		1.000 0.080 7 80671102 frameshift variant AAAA/-;AAAAA delins
CUI: C1842090
Disease: Platelet Glycoprotein IV Deficiency
Platelet Glycoprotein IV Deficiency 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases 0.700 1.000 2 1996 2002
dbSNP: rs112908525
rs112908525 		7 80675962 intron variant -/GGGTTGAGA delins 0.38
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs112908525
rs112908525 		7 80675962 intron variant -/GGGTTGAGA delins 0.38
CUI: C0427460
Disease: Red cell distribution width determination
Red cell distribution width determination 		0.700 1.000 1 2017 2017
dbSNP: rs112908525
rs112908525 		7 80675962 intron variant -/GGGTTGAGA delins 0.38
CUI: C1304746
Disease: RDW - Red blood cell distribution width result
RDW - Red blood cell distribution width result 		0.700 1.000 1 2017 2017
dbSNP: rs11574703
rs11574703 		7 80657592 intron variant T/C snv 1.1E-02
CUI: C3547188
Disease: response to fenofibrate
response to fenofibrate 		0.700 1.000 1 2012 2012
dbSNP: rs11574728
rs11574728 		7 80676025 intron variant G/A snv 7.5E-03
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11574728
rs11574728 		7 80676025 intron variant G/A snv 7.5E-03
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11574728
rs11574728 		7 80676025 intron variant G/A snv 7.5E-03
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2012 2012
dbSNP: rs11764390
rs11764390 		7 80586889 intron variant G/A snv 0.48
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs11974777
rs11974777 		7 80583740 intron variant T/G snv 0.11
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs13236689
rs13236689 		7 80606698 intron variant T/G snv 0.44
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2012 2012
dbSNP: rs139761834
rs139761834 		7 80545045 intron variant T/C snv 2.8E-04
CUI: C0201899
Disease: Aspartate aminotransferase measurement
Aspartate aminotransferase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs139761834
rs139761834 		7 80545045 intron variant T/C snv 2.8E-04
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2018 2018
dbSNP: rs139761834
rs139761834 		7 80545045 intron variant T/C snv 2.8E-04
CUI: C0032181
Disease: Platelet Count measurement
Platelet Count measurement 		0.700 1.000 1 2018 2018
dbSNP: rs144658219
rs144658219 		7 80667649 intron variant -/ACTTGATT delins 0.34
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016