PLA2G7, phospholipase A2 group VII, 7941

N. diseases: 136; N. variants: 11
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: rs76863441
rs76863441 		0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03
CUI: C3280315
Disease: Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-Activating Factor Acetylhydrolase Deficiency 		Respiratory Tract Diseases; Immune System Diseases 0.800 1.000 5 1996 1998
dbSNP: rs76863441
rs76863441 		0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.760 0.714 7 2009 2017
dbSNP: rs201256712
rs201256712 		1.000 0.080 6 46709354 missense variant T/C snv 2.8E-05 3.5E-05
CUI: C3280315
Disease: Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-Activating Factor Acetylhydrolase Deficiency 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 5 1996 1998
dbSNP: rs76863441
rs76863441 		0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03
CUI: C0948089
Disease: Acute Coronary Syndrome
Acute Coronary Syndrome 		Cardiovascular Diseases 0.700 1.000 1 2017 2017
dbSNP: rs1051931
rs1051931 		0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79
CUI: C4016754
Disease: ASTHMA AND ATOPY, SUSCEPTIBILITY TO
ASTHMA AND ATOPY, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1805018
rs1805018 		0.827 0.200 6 46711566 missense variant A/G snv 6.8E-02 0.10
CUI: C4016754
Disease: ASTHMA AND ATOPY, SUSCEPTIBILITY TO
ASTHMA AND ATOPY, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs201899866
rs201899866 		1.000 0.080 6 46711495 splice donor variant C/T snv 9.6E-04 1.9E-04
CUI: C3280315
Disease: Platelet-Activating Factor Acetylhydrolase Deficiency
Platelet-Activating Factor Acetylhydrolase Deficiency 		Respiratory Tract Diseases; Immune System Diseases 0.700 0
dbSNP: rs1051931
rs1051931 		0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.040 0.250 4 2010 2018
dbSNP: rs1051931
rs1051931 		0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.040 1.000 4 2003 2011
dbSNP: rs1805017
rs1805017 		0.851 0.240 6 46716485 missense variant C/A;T snv 4.0E-06; 0.31
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.040 1.000 4 2010 2018
dbSNP: rs1805018
rs1805018 		0.827 0.200 6 46711566 missense variant A/G snv 6.8E-02 0.10
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease 		Cardiovascular Diseases 0.040 0.750 4 2009 2018
dbSNP: rs76863441
rs76863441 		0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.040 1.000 4 2004 2017
dbSNP: rs1051931
rs1051931 		0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.030 1.000 3 2009 2017
dbSNP: rs76863441
rs76863441 		0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.030 1.000 3 2011 2017
dbSNP: rs1051931
rs1051931 		0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		Mental Disorders 0.020 1.000 2 1997 2002
dbSNP: rs76863441
rs76863441 		0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		Nervous System Diseases; Cardiovascular Diseases 0.020 0.500 2 1997 2016
dbSNP: rs76863441
rs76863441 		0.672 0.440 6 46709361 missense variant C/A snv 4.5E-03 1.3E-03
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.020 0.500 2 2002 2016
dbSNP: rs1051931
rs1051931 		0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		Nutritional and Metabolic Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1051931
rs1051931 		0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1051931
rs1051931 		0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 < 0.001 1 2017 2017
dbSNP: rs1051931
rs1051931 		0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79
CUI: C0155626
Disease: Acute myocardial infarction
Acute myocardial infarction 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.010 1.000 1 2015 2015
dbSNP: rs1051931
rs1051931 		0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79
CUI: C0010054
Disease: Coronary Arteriosclerosis
Coronary Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2017 2017
dbSNP: rs1051931
rs1051931 		0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79
CUI: C0948008
Disease: Ischemic stroke
Ischemic stroke 		Nervous System Diseases; Cardiovascular Diseases 0.010 1.000 1 2014 2014
dbSNP: rs1051931
rs1051931 		0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		Cardiovascular Diseases 0.010 1.000 1 2006 2006
dbSNP: rs1051931
rs1051931 		0.708 0.400 6 46705206 missense variant A/G snv 0.81 0.79
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.010 1.000 1 2000 2000