PLTP, phospholipid transfer protein, 5360

N. diseases: 62; N. variants: 9
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: rs6065904
rs6065904
1.000 0.080 20 45906012 intron variant G/A snv 0.23
CUI: C0523744
Disease: Lipids measurement
Lipids measurement
0.800 1.000 2 2009 2012
dbSNP: rs11569646
rs11569646
20 45906223 intron variant T/C snv 3.7E-03 1.6E-02
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012
dbSNP: rs378114
rs378114
1.000 0.080 20 45909788 intron variant T/C snv 0.71
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs389877
rs389877
20 45903845 intron variant G/A;C snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs435306
rs435306
20 45909845 intron variant G/T snv 0.71
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs435306
rs435306
20 45909845 intron variant G/T snv 0.71
High density lipoprotein measurement
0.700 1.000 1 2017 2017
dbSNP: rs6065904
rs6065904
1.000 0.080 20 45906012 intron variant G/A snv 0.23
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs6065904
rs6065904
1.000 0.080 20 45906012 intron variant G/A snv 0.23
CUI: C0030662
Disease: Gambling, Pathological
Gambling, Pathological
Mental Disorders; Behavior and Behavior Mechanisms 0.700 1.000 1 2016 2016
dbSNP: rs6065904
rs6065904
1.000 0.080 20 45906012 intron variant G/A snv 0.23
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs6065904
rs6065904
1.000 0.080 20 45906012 intron variant G/A snv 0.23
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.700 1.000 1 2018 2018
dbSNP: rs6065904
rs6065904
1.000 0.080 20 45906012 intron variant G/A snv 0.23
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012
dbSNP: rs6065905
rs6065905
20 45909198 intron variant T/C snv 0.16
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs6073950
rs6073950
20 45904471 intron variant A/G;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs6073952
rs6073952
20 45908293 intron variant G/A snv 0.14
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement
0.700 1.000 1 2012 2012
dbSNP: rs6073952
rs6073952
20 45908293 intron variant G/A snv 0.14
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs6073952
rs6073952
20 45908293 intron variant G/A snv 0.14
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012
dbSNP: rs6073952
rs6073952
20 45908293 intron variant G/A snv 0.14
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs2294213
rs2294213
0.925 0.080 20 45912053 intron variant C/A;G snv
Cholesteryl Ester Transfer Protein Deficiency
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs2294213
rs2294213
0.925 0.080 20 45912053 intron variant C/A;G snv
CUI: C0473527
Disease: Hypoalphalipoproteinemias
Hypoalphalipoproteinemias
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases 0.010 1.000 1 2008 2008
dbSNP: rs378114
rs378114
1.000 0.080 20 45909788 intron variant T/C snv 0.71
Diabetes Mellitus, Non-Insulin-Dependent
Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs6065904
rs6065904
1.000 0.080 20 45906012 intron variant G/A snv 0.23
CUI: C0007273
Disease: Carotid Artery Diseases
Carotid Artery Diseases
Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2010 2010