EPX, eosinophil peroxidase, 8288

N. diseases: 44; N. variants: 5
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: rs121434566
rs121434566 		1.000 0.040 17 58196994 missense variant G/A snv 6.8E-05 8.4E-05
CUI: C1850000
Disease: Presentey Anomaly
Presentey Anomaly 		Hemic and Lymphatic Diseases 0.800 1.000 1 1994 1994
dbSNP: rs141055426
rs141055426 		1.000 0.040 17 58203314 missense variant G/A snv 1.9E-04 5.6E-05
CUI: C1850000
Disease: Presentey Anomaly
Presentey Anomaly 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs397518446
rs397518446 		1.000 0.040 17 58200223 coding sequence variant -/G delins
CUI: C1850000
Disease: Presentey Anomaly
Presentey Anomaly 		Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs35135976
rs35135976 		1.000 0.120 17 58197210 missense variant C/T snv 5.6E-05 4.2E-05
CUI: C0018621
Disease: Hay fever
Hay fever 		Respiratory Tract Diseases; Immune System Diseases; Otorhinolaryngologic Diseases 0.020 0.500 2 2003 2004
dbSNP: rs2302313
rs2302313 		0.925 0.080 17 58205665 3 prime UTR variant G/A snv 9.2E-02 8.3E-02
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs2302313
rs2302313 		0.925 0.080 17 58205665 3 prime UTR variant G/A snv 9.2E-02 8.3E-02
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2012 2012