G6PD, glucose-6-phosphate dehydrogenase, 2539

N. diseases: 410; N. variants: 66
Disease: Favism ×
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: rs1050757
rs1050757 		0.925 0.160 X 154531643 3 prime UTR variant C/T snv 0.63
CUI: C0015702
Disease: Favism
Favism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chemically-Induced Disorders; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs200111236
rs200111236 		0.882 0.200 X 154534463 missense variant G/A;C snv 2.8E-04; 5.5E-06
CUI: C0015702
Disease: Favism
Favism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chemically-Induced Disorders; Hemic and Lymphatic Diseases 0.010 1.000 1 2002 2002
dbSNP: rs2071429
rs2071429 		0.925 0.160 X 154532293 intron variant G/A snv 0.63
CUI: C0015702
Disease: Favism
Favism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chemically-Induced Disorders; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs2230037
rs2230037 		0.925 0.160 X 154532439 synonymous variant A/G snv
CUI: C0015702
Disease: Favism
Favism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chemically-Induced Disorders; Hemic and Lymphatic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs5030872
rs5030872 		0.882 0.160 X 154534440 missense variant T/A snv 1.4E-04 4.7E-04
CUI: C0015702
Disease: Favism
Favism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chemically-Induced Disorders; Hemic and Lymphatic Diseases 0.010 1.000 1 1996 1996
dbSNP: rs78478128
rs78478128 		0.851 0.160 X 154536168 missense variant G/C snv 1.7E-04 1.1E-04
CUI: C0015702
Disease: Favism
Favism 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Chemically-Induced Disorders; Hemic and Lymphatic Diseases 0.010 1.000 1 2002 2002