ZPBP2, zona pellucida binding protein 2, 124626

N. diseases: 20; N. variants: 23
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: rs1054609
rs1054609 		0.925 0.160 17 39877024 3 prime UTR variant A/C snv 0.40
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs1054609
rs1054609 		0.925 0.160 17 39877024 3 prime UTR variant A/C snv 0.40
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs10852935
rs10852935 		1.000 0.080 17 39875421 synonymous variant C/T snv 0.40 0.35
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs10852936
rs10852936 		0.925 0.120 17 39875461 intron variant C/T snv 0.39 0.40
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs10852936
rs10852936 		0.925 0.120 17 39875461 intron variant C/T snv 0.39 0.40
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs11078925
rs11078925 		0.925 0.160 17 39868955 intron variant T/C snv 0.36
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs11078925
rs11078925 		0.925 0.160 17 39868955 intron variant T/C snv 0.36
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs11078925
rs11078925 		0.925 0.160 17 39868955 intron variant T/C snv 0.36
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs11557466
rs11557466 		0.925 0.160 17 39868373 synonymous variant C/T snv 0.40 0.36
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs11557466
rs11557466 		0.925 0.160 17 39868373 synonymous variant C/T snv 0.40 0.36
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs11557466
rs11557466 		0.925 0.160 17 39868373 synonymous variant C/T snv 0.40 0.36
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs11557467
rs11557467 		0.851 0.200 17 39872381 missense variant G/T snv 0.45 0.45
CUI: C0264408
Disease: Childhood asthma
Childhood asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2007 2007
dbSNP: rs11557467
rs11557467 		0.851 0.200 17 39872381 missense variant G/T snv 0.45 0.45
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs11650661
rs11650661 		1.000 0.080 17 39870033 intron variant A/C;T snv
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs11655198
rs11655198 		1.000 0.080 17 39869916 intron variant C/T snv 0.43
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2016 2016
dbSNP: rs11658278
rs11658278 		1.000 0.080 17 39874911 intron variant T/C snv 0.46
CUI: C0004238
Disease: Atrial Fibrillation
Atrial Fibrillation 		Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases 0.700 1.000 1 2018 2018
dbSNP: rs11870965
rs11870965 		0.925 0.160 17 39873952 intron variant T/A snv 0.40
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs11870965
rs11870965 		0.925 0.160 17 39873952 intron variant T/A snv 0.40
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs11870965
rs11870965 		0.925 0.160 17 39873952 intron variant T/A snv 0.40
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2011 2011
dbSNP: rs12709365
rs12709365 		1.000 0.080 17 39871147 intron variant A/G snv 0.40
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs12936231
rs12936231 		0.925 0.160 17 39872867 intron variant C/G;T snv
CUI: C1527304
Disease: Allergic Reaction
Allergic Reaction 		Immune System Diseases 0.700 1.000 1 2013 2013
dbSNP: rs12939457
rs12939457 		1.000 0.120 17 39875935 intron variant T/C snv 0.38
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder) 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.700 1.000 1 2018 2018
dbSNP: rs13380815
rs13380815 		1.000 0.080 17 39871330 intron variant A/G snv 0.40
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs34189114
rs34189114 		1.000 0.080 17 39876207 intron variant C/T snv 0.36
CUI: C0008312
Disease: Primary biliary cirrhosis
Primary biliary cirrhosis 		Pathological Conditions, Signs and Symptoms; Digestive System Diseases 0.700 1.000 1 2012 2012
dbSNP: rs35736272
rs35736272 		0.807 0.160 17 39876427 intron variant T/C snv 0.35
CUI: C0010346
Disease: Crohn Disease
Crohn Disease 		Digestive System Diseases 0.700 1.000 1 2016 2016