SERPINA12, serpin family A member 12, 145264

N. diseases: 17; N. variants: 4
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: rs1998207
rs1998207 		14 94491377 intron variant G/T snv 0.34
CUI: C0162701
Disease: Polysomnography
Polysomnography 		0.700 1.000 1 2012 2012
dbSNP: rs60189618
rs60189618 		14 94509550 intron variant C/T snv 8.7E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs73338697
rs73338697 		14 94516256 intron variant G/A;C snv
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs2236242
rs2236242 		0.776 0.280 14 94493715 intron variant T/A snv 0.31
CUI: C0028754
Disease: Obesity
Obesity 		Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases 0.020 1.000 2 2017 2019
dbSNP: rs2236242
rs2236242 		0.776 0.280 14 94493715 intron variant T/A snv 0.31
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.020 1.000 2 2010 2019
dbSNP: rs2236242
rs2236242 		0.776 0.280 14 94493715 intron variant T/A snv 0.31
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.020 1.000 2 2012 2016
dbSNP: rs2236242
rs2236242 		0.776 0.280 14 94493715 intron variant T/A snv 0.31
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2236242
rs2236242 		0.776 0.280 14 94493715 intron variant T/A snv 0.31
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2014 2014
dbSNP: rs2236242
rs2236242 		0.776 0.280 14 94493715 intron variant T/A snv 0.31
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2236242
rs2236242 		0.776 0.280 14 94493715 intron variant T/A snv 0.31
CUI: C0011847
Disease: Diabetes
Diabetes 		Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2236242
rs2236242 		0.776 0.280 14 94493715 intron variant T/A snv 0.31
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2236242
rs2236242 		0.776 0.280 14 94493715 intron variant T/A snv 0.31
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2013 2013