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

N. diseases: 15; N. variants: 44
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: rs138207257
rs138207257 		0.925 0.160 10 97611535 missense variant G/A;T snv 2.0E-05; 1.1E-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 0.800 1.000 5 2010 2012
dbSNP: rs267606764
rs267606764 		1.000 0.160 10 97601925 missense variant T/G snv 6.4E-05 3.5E-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 0.800 1.000 1 2010 2010
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: rs185803104
rs185803104 		1.000 0.160 10 97600168 splice region variant G/T snv 1.2E-03 1.5E-03
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 6 2010 2015
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
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: rs11817730
rs11817730 		10 97598754 intron variant A/G snv 0.18 0.20
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs149150736
rs149150736 		1.000 0.160 10 97611582 missense variant C/T snv 2.8E-05 2.8E-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 2012 2012
dbSNP: rs202047589
rs202047589 		0.925 0.160 10 97599780 missense variant C/T snv 4.4E-05 7.0E-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 2011 2011
dbSNP: rs2297644
rs2297644 		10 97599982 non coding transcript exon variant T/C snv 0.15
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
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: rs2861970
rs2861970 		10 97592327 intron variant A/C;G;T snv
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs61863282
rs61863282 		10 97591247 intron variant C/T snv 0.11
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7068278
rs7068278 		10 97597385 intron variant G/T snv 0.18
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7078003
rs7078003 		10 97599655 non coding transcript exon variant C/T snv 0.14 0.14
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012
dbSNP: rs7078003
rs7078003 		10 97599655 non coding transcript exon variant C/T snv 0.14 0.14
CUI: C0201874
Disease: Amino acids measurement
Amino acids measurement 		0.700 1.000 1 2016 2016
dbSNP: rs7078003
rs7078003 		10 97599655 non coding transcript exon variant C/T snv 0.14 0.14
CUI: C0202202
Disease: Protein measurement
Protein measurement 		0.700 1.000 1 2016 2016
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: 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: 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: rs758304537
rs758304537 		0.925 0.160 10 97584911 stop gained C/T snv 4.0E-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 1.000 1 2012 2012
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: rs777046879
rs777046879 		1.000 0.160 10 97611648 missense variant G/A snv 2.0E-05 1.4E-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 2015 2015
dbSNP: rs7913812
rs7913812 		10 97597874 intron variant T/C snv 0.20
CUI: C0523465
Disease: Serum albumin measurement
Serum albumin measurement 		0.700 1.000 1 2012 2012