HOGA1, 4-hydroxy-2-oxoglutarate aldolase 1, 112817

N. diseases: 15; N. variants: 44
Disease: Primary hyperoxaluria type III ×
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: rs1554874130
rs1554874130 		1.000 0.160 10 97599088 splice acceptor variant G/A snv
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1554874148
rs1554874148 		1.000 0.160 10 97599152 frameshift variant T/- del
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1564760008
rs1564760008 		1.000 0.160 10 97601990 splice donor variant GG/TT mnv
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs200529020
rs200529020 		1.000 0.160 10 97598894 missense variant G/A snv 3.2E-05 2.1E-05
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs746776892
rs746776892 		1.000 0.160 10 97599194 frameshift variant C/- delins 4.0E-06 4.2E-05
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs764396564
rs764396564 		1.000 0.160 10 97584837 missense variant C/G;T snv 2.0E-05; 1.3E-04
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs770050262
rs770050262 		1.000 0.160 10 97601990 splice region variant G/A;T snv 1.1E-04; 6.6E-05
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs776817346
rs776817346 		1.000 0.160 10 97601855 splice acceptor variant A/G snv 4.0E-06
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs777683624
rs777683624 		1.000 0.160 10 97599158 frameshift variant C/- delins 4.0E-06 7.0E-06
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs796052091
rs796052091 		1.000 0.160 10 97584861 frameshift variant A/- del
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs924232072
rs924232072 		1.000 0.160 10 97584709 frameshift variant -/TGGTC delins 4.0E-06
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs990830655
rs990830655 		1.000 0.160 10 97600165 splice donor variant T/A;G snv 4.0E-06; 4.0E-06
CUI: C3150878
Disease: Primary hyperoxaluria type III
Primary hyperoxaluria type III 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0