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: rs397509360
rs397509360 		1.000 0.160 10 97611612 inframe deletion AGG/- delins
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 1.000 8 2010 2016
dbSNP: rs796052085
rs796052085 		1.000 0.160 10 97601884 missense variant C/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 1.000 1 2013 2013
dbSNP: rs796052087
rs796052087 		1.000 0.160 10 97611550 missense variant T/C 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 1.000 1 2012 2012
dbSNP: rs796052088
rs796052088 		1.000 0.160 10 97598790 missense 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 1.000 1 2015 2015
dbSNP: rs796052089
rs796052089 		1.000 0.160 10 97598871 missense variant A/T 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 1.000 1 2015 2015
dbSNP: rs796052092
rs796052092 		1.000 0.160 10 97601958 inframe deletion TGC/- delins
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 1.000 1 2015 2015
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: 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: rs796052090
rs796052090 		1.000 0.160 10 97599744 missense variant T/A;C 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 1.000 1 2015 2015
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
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: 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: 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: rs755562733
rs755562733 		1.000 0.160 10 97601889 missense variant G/A;T snv 4.0E-06; 1.6E-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 1.000 1 2013 2013
dbSNP: rs756489804
rs756489804 		1.000 0.160 10 97611514 missense variant C/G;T 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 1.000 1 2011 2011
dbSNP: rs767405535
rs767405535 		1.000 0.160 10 97599094 stop gained C/A;T 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 1.000 1 2013 2013
dbSNP: rs1425736036
rs1425736036 		1.000 0.160 10 97584819 frameshift variant -/C 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: 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: rs267606763
rs267606763 		1.000 0.160 10 97584912 missense variant G/A;C 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 1.000 1 2010 2010
dbSNP: rs752277936
rs752277936 		1.000 0.160 10 97601952 stop gained C/T 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 1.000 1 2012 2012
dbSNP: rs749315029
rs749315029 		1.000 0.160 10 97601991 splice donor variant G/A;T snv 4.1E-06; 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 1.000 2 2015 2017
dbSNP: rs746419489
rs746419489 		0.925 0.160 10 97584820 stop gained C/A;T snv 8.0E-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 1.000 1 2012 2012
dbSNP: rs201803986
rs201803986 		1.000 0.160 10 97584810 missense variant C/A;T snv 1.2E-05; 1.7E-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 1.000 3 2012 2015