CERT1, ceramide transporter 1, 10087

N. diseases: 71; N. variants: 19
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: rs12916
rs12916 		0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 10 2010 2019
dbSNP: rs12916
rs12916 		0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.800 1.000 8 2010 2019
dbSNP: rs3846663
rs3846663 		0.882 0.120 5 75359901 intron variant C/T snv 0.35
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.800 1.000 3 2009 2019
dbSNP: rs12916
rs12916 		0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 5 2010 2013
dbSNP: rs10055011
rs10055011 		5 75502331 intron variant G/A snv 0.12
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2009 2009
dbSNP: rs12916
rs12916 		0.807 0.240 5 75360714 3 prime UTR variant T/C;G snv 0.37
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs181686584
rs181686584 		5 75429983 intron variant C/T snv 6.7E-03
CUI: C1629609
Disease: Age at menopause
Age at menopause 		0.700 1.000 1 2013 2013
dbSNP: rs200174418
rs200174418 		5 75449704 intron variant GG/- del
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2019 2019
dbSNP: rs200174418
rs200174418 		5 75449704 intron variant GG/- del
CUI: C0001948
Disease: Alcohol consumption
Alcohol consumption 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs3804231
rs3804231 		5 75400954 non coding transcript exon variant G/A snv 0.12
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3804231
rs3804231 		5 75400954 non coding transcript exon variant G/A snv 0.12
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3804231
rs3804231 		5 75400954 non coding transcript exon variant G/A snv 0.12
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs3846663
rs3846663 		0.882 0.120 5 75359901 intron variant C/T snv 0.35
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2019 2019
dbSNP: rs3846663
rs3846663 		0.882 0.120 5 75359901 intron variant C/T snv 0.35
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.700 1.000 1 2011 2011
dbSNP: rs3846663
rs3846663 		0.882 0.120 5 75359901 intron variant C/T snv 0.35
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2009 2009
dbSNP: rs3846663
rs3846663 		0.882 0.120 5 75359901 intron variant C/T snv 0.35
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2009 2009
dbSNP: rs4385188
rs4385188 		5 75438537 intron variant A/G snv 0.33
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4385188
rs4385188 		5 75438537 intron variant A/G snv 0.33
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4385188
rs4385188 		5 75438537 intron variant A/G snv 0.33
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4385188
rs4385188 		5 75438537 intron variant A/G snv 0.33
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement 		0.700 1.000 1 2009 2009
dbSNP: rs4604177
rs4604177 		5 75513055 intron variant C/T snv 0.55
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2017 2017
dbSNP: rs4604177
rs4604177 		5 75513055 intron variant C/T snv 0.55
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement 		0.700 1.000 1 2017 2017
dbSNP: rs4704220
rs4704220 		5 75461731 intron variant G/A snv 0.55
CUI: C0578022
Disease: Finding of body mass index
Finding of body mass index 		0.700 1.000 1 2013 2013
dbSNP: rs4704220
rs4704220 		5 75461731 intron variant G/A snv 0.55
CUI: C0202117
Disease: Low density lipoprotein cholesterol measurement
Low density lipoprotein cholesterol measurement 		0.700 1.000 1 2012 2012
dbSNP: rs4704220
rs4704220 		5 75461731 intron variant G/A snv 0.55
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement 		0.700 1.000 1 2012 2012