SERPINE2, serpin family E member 2, 5270

N. diseases: 87; N. variants: 12
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: rs68066031
rs68066031 		2 224015781 intron variant T/A;C snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 2 2018 2018
dbSNP: rs12436
rs12436 		2 224001859 synonymous variant C/A;G snv 0.16 0.18
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs13412535
rs13412535 		2 224010157 intron variant G/A snv 0.17
CUI: C2825910
Disease: Stem Cell Factor Measurement
Stem Cell Factor Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs13412535
rs13412535 		2 224010157 intron variant G/A snv 0.17
CUI: C0200665
Disease: Platelet mean volume determination (procedure)
Platelet mean volume determination (procedure) 		0.700 1.000 1 2016 2016
dbSNP: rs13412535
rs13412535 		2 224010157 intron variant G/A snv 0.17
CUI: C2697779
Disease: Interleukin 2 Measurement
Interleukin 2 Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs13412535
rs13412535 		2 224010157 intron variant G/A snv 0.17
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs13412535
rs13412535 		2 224010157 intron variant G/A snv 0.17
CUI: C3897558
Disease: Soluble Interleukin 6 Receptor Measurement
Soluble Interleukin 6 Receptor Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs7576030
rs7576030 		2 224012535 intron variant A/G snv 0.80
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs861442
rs861442 		2 224038180 intron variant A/G snv 0.64
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs863957
rs863957 		2 224036103 intron variant C/A;T snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs16865421
rs16865421 		1.000 0.040 2 223993376 intron variant A/G snv 0.10
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.020 1.000 2 2009 2019
dbSNP: rs729631
rs729631 		0.882 0.040 2 223980202 non coding transcript exon variant C/A;G snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.020 1.000 2 2009 2012
dbSNP: rs3795879
rs3795879 		1.000 0.040 2 223998104 intron variant C/A;T snv 8.0E-06; 0.21
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2015 2015
dbSNP: rs6734100
rs6734100 		1.000 0.040 2 223977278 intron variant C/G snv 0.11
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2009 2009
dbSNP: rs729631
rs729631 		0.882 0.040 2 223980202 non coding transcript exon variant C/A;G snv
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs729631
rs729631 		0.882 0.040 2 223980202 non coding transcript exon variant C/A;G snv
CUI: C0264393
Disease: Panacinar Emphysema
Panacinar Emphysema 		Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs840088
rs840088 		1.000 0.040 2 224035127 intron variant T/C snv 0.62
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		Respiratory Tract Diseases 0.010 1.000 1 2011 2011
dbSNP: rs975278
rs975278 		0.925 0.040 2 223982990 intron variant T/A;C snv
CUI: C0024117
Disease: Chronic Obstructive Airway Disease
Chronic Obstructive Airway Disease 		Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs975278
rs975278 		0.925 0.040 2 223982990 intron variant T/A;C snv
CUI: C0034067
Disease: Pulmonary Emphysema
Pulmonary Emphysema 		Respiratory Tract Diseases 0.010 1.000 1 2010 2010