NOX5, NADPH oxidase 5, 79400

N. diseases: 57; 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: rs311905
rs311905 		1.000 0.080 15 69055253 intron variant G/A snv 0.86
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs376970496
rs376970496 		15 69028303 missense variant T/C snv
CUI: C0018799
Disease: Heart Diseases
Heart Diseases 		Cardiovascular Diseases 0.010 1.000 1 2016 2016
dbSNP: rs62010828
rs62010828 		1.000 0.080 15 69020873 intron variant G/C snv 5.9E-02
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2019 2019
dbSNP: rs8024894
rs8024894 		1.000 0.080 15 69055925 intron variant T/C snv 9.6E-02
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2019 2019