Disease: Primary hyperoxaluria type 2 ×
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: rs80356708
rs80356708 		0.882 0.160 9 37424862 frameshift variant G/- delins
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 5 1999 2008
dbSNP: rs180177314
rs180177314 		0.925 0.160 9 37429732 missense variant G/A snv 1.2E-04 4.2E-05
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 4 2000 2015
dbSNP: rs180177316
rs180177316 		1.000 0.160 9 37430520 frameshift variant CT/- del 2.1E-05
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		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 2001 2005
dbSNP: rs180177319
rs180177319 		1.000 0.160 9 37424843 splice acceptor variant A/G snv
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		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 2003 2015
dbSNP: rs180177307
rs180177307 		1.000 0.160 9 37426587 stop gained G/A;T snv 4.0E-06
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		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 2007 2015
dbSNP: rs180177304
rs180177304 		1.000 0.160 9 37424863 stop gained G/A snv 7.0E-06
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		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: rs180177309
rs180177309 		1.000 0.160 9 37426653 splice region variant AAGT/- delins 2.8E-05 7.0E-06
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		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 2003 2003
dbSNP: rs180177313
rs180177313 		1.000 0.160 9 37428574 splice donor variant T/A snv
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		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: rs180177317
rs180177317 		1.000 0.160 9 37432007 splice acceptor variant G/A snv 1.6E-05
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		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 2000 2000
dbSNP: rs180177321
rs180177321 		0.925 0.160 9 37432135 frameshift variant TG/- delins
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		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 2014 2014
dbSNP: rs771019056
rs771019056 		1.000 0.160 9 37428532 frameshift variant -/A delins 8.0E-06; 4.0E-06 1.4E-05
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		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: rs1057516292
rs1057516292 		1.000 0.160 9 37429833 frameshift variant T/- delins
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057516299
rs1057516299 		1.000 0.160 9 37426653 frameshift variant A/- delins
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057516823
rs1057516823 		1.000 0.160 9 37432027 frameshift variant -/A delins
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057516831
rs1057516831 		1.000 0.160 9 37436749 frameshift variant A/- del
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057516990
rs1057516990 		1.000 0.160 9 37429753 frameshift variant T/- del
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057517026
rs1057517026 		1.000 0.160 9 37428516 frameshift variant TG/- delins
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057517238
rs1057517238 		1.000 0.160 9 37425932 frameshift variant -/A delins
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057517333
rs1057517333 		1.000 0.160 9 37428514 frameshift variant GC/- del
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1057517398
rs1057517398 		1.000 0.160 9 37424977 splice donor variant T/G snv
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs111256477
rs111256477 		1.000 0.160 9 37429837 splice donor variant G/C;T snv 8.0E-06; 4.0E-06; 4.0E-06
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs119490108
rs119490108 		0.925 0.160 9 37426545 stop gained C/T snv 1.4E-05
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1244822375
rs1244822375 		1.000 0.160 9 37424976 splice donor variant G/C;T snv 4.0E-06 7.0E-06
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1257080057
rs1257080057 		1.000 0.160 9 37432006 splice acceptor variant A/- del 7.0E-06
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs1422977131
rs1422977131 		1.000 0.160 9 37430510 splice acceptor variant G/A;C snv
CUI: C0268165
Disease: Primary hyperoxaluria type 2
Primary hyperoxaluria type 2 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0