EPHX2, epoxide hydrolase 2, 2053

N. diseases: 97; N. variants: 20
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: rs41507953
rs41507953
0.790 0.280 8 27500988 missense variant A/G snv 8.7E-02 0.13
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2018 2018
dbSNP: rs751141
rs751141
0.732 0.400 8 27516348 missense variant G/A snv 0.12 0.10
CUI: C0742343
Disease: Acute Chest Syndrome
Acute Chest Syndrome
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2018 2018