PLIN4, perilipin 4, 729359

N. diseases: 14; N. variants: 6
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: rs8887
rs8887 		1.000 0.080 19 4502189 3 prime UTR variant T/C;G snv 0.51; 1.8E-05
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.800 1.000 2 2012 2016
dbSNP: rs8887
rs8887 		1.000 0.080 19 4502189 3 prime UTR variant T/C;G snv 0.51; 1.8E-05
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 2 2016 2019
dbSNP: rs11673616
rs11673616 		19 4506903 intron variant A/C;G snv
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs13041
rs13041 		19 4502270 3 prime UTR variant C/T snv 0.45
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs16989695
rs16989695 		19 4505433 intron variant G/A snv 0.45
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2016 2016
dbSNP: rs4991027
rs4991027 		19 4509047 intron variant C/T snv 9.3E-02
CUI: C4528257
Disease: Corpuscular Hemoglobin Concentration Mean
Corpuscular Hemoglobin Concentration Mean 		0.700 1.000 1 2012 2012
dbSNP: rs8887
rs8887 		1.000 0.080 19 4502189 3 prime UTR variant T/C;G snv 0.51; 1.8E-05
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs8887
rs8887 		1.000 0.080 19 4502189 3 prime UTR variant T/C;G snv 0.51; 1.8E-05
CUI: C0524587
Disease: Mean Corpuscular Volume (result)
Mean Corpuscular Volume (result) 		0.700 1.000 1 2016 2016
dbSNP: rs8887
rs8887 		1.000 0.080 19 4502189 3 prime UTR variant T/C;G snv 0.51; 1.8E-05
CUI: C0206161
Disease: Reticulocyte count (procedure)
Reticulocyte count (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs8887
rs8887 		1.000 0.080 19 4502189 3 prime UTR variant T/C;G snv 0.51; 1.8E-05
CUI: C0518015
Disease: Hemoglobin measurement
Hemoglobin measurement 		0.700 1.000 1 2016 2016
dbSNP: rs884164
rs884164 		0.925 0.040 19 4521613 upstream gene variant A/G;T snv
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs884164
rs884164 		0.925 0.040 19 4521613 upstream gene variant A/G;T snv
CUI: C0151744
Disease: Myocardial Ischemia
Myocardial Ischemia 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs8887
rs8887 		1.000 0.080 19 4502189 3 prime UTR variant T/C;G snv 0.51; 1.8E-05
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.010 1.000 1 2011 2011