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: rs1057516896
rs1057516896 		1.000 0.160 2 240874055 frameshift variant AAGG/- del
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs111742810
rs111742810 		1.000 0.160 2 240874064 splice donor variant T/A snv
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs111996685
rs111996685 		1.000 0.160 2 240874063 splice donor variant G/A;C snv
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		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 2009 2009
dbSNP: rs112673831
rs112673831 		1.000 0.160 2 240875108 splice acceptor variant G/A;C;T snv 4.0E-06; 8.0E-06
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0
dbSNP: rs113681235
rs113681235 		1.000 0.160 2 240869364 splice donor variant T/A;G snv 9.1E-06
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		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 2009 2009
dbSNP: rs121908520
rs121908520 		1.000 0.160 2 240873995 missense variant T/C snv 4.0E-06 3.5E-05
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 21 1991 2014
dbSNP: rs121908521
rs121908521 		1.000 0.160 2 240869202 stop gained C/G;T snv 4.0E-06; 4.0E-05
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		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 1991 1991
dbSNP: rs121908522
rs121908522 		1.000 0.160 2 240869249 missense variant G/A snv 2.0E-05
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 24 1991 2014
dbSNP: rs121908523
rs121908523 		0.882 0.160 2 240868986 missense variant G/A snv 1.2E-05 4.2E-05
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 20 1991 2014
dbSNP: rs121908523
rs121908523 		0.882 0.160 2 240868986 missense variant G/A snv 1.2E-05 4.2E-05
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs121908523
rs121908523 		0.882 0.160 2 240868986 missense variant G/A snv 1.2E-05 4.2E-05
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs121908524
rs121908524 		0.925 0.160 2 240871379 missense variant T/A snv 9.0E-05 1.5E-04
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.820 1.000 25 1991 2014
dbSNP: rs121908524
rs121908524 		0.925 0.160 2 240871379 missense variant T/A snv 9.0E-05 1.5E-04
CUI: C0020501
Disease: Primary Hyperoxaluria
Primary Hyperoxaluria 		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 2012
dbSNP: rs121908525
rs121908525 		0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.860 1.000 29 1991 2015
dbSNP: rs121908525
rs121908525 		0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05
CUI: C0020501
Disease: Primary Hyperoxaluria
Primary Hyperoxaluria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 5 2000 2007
dbSNP: rs121908525
rs121908525 		0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05
CUI: C0027709
Disease: Nephrocalcinosis
Nephrocalcinosis 		Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs121908525
rs121908525 		0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05
CUI: C2316810
Disease: Chronic kidney disease stage 5
Chronic kidney disease stage 5 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs121908525
rs121908525 		0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs121908525
rs121908525 		0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-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 0.010 1.000 1 2004 2004
dbSNP: rs121908525
rs121908525 		0.790 0.160 2 240875159 missense variant T/C snv 4.4E-05 5.6E-05
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2006 2006
dbSNP: rs121908526
rs121908526 		1.000 0.160 2 240875125 missense variant C/T snv 5.6E-05 4.9E-05
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 24 1991 2014
dbSNP: rs121908527
rs121908527 		1.000 0.160 2 240875126 missense variant G/A;C;T snv 1.6E-05; 4.0E-06
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.800 1.000 24 1991 2015
dbSNP: rs121908528
rs121908528 		1.000 0.160 2 240875166 stop gained G/A snv
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		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 1997 1997
dbSNP: rs121908529
rs121908529 		0.851 0.160 2 240871433 missense variant G/A;C snv 5.6E-04
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.850 1.000 31 1990 2019
dbSNP: rs121908529
rs121908529 		0.851 0.160 2 240871433 missense variant G/A;C snv 5.6E-04
CUI: C0020501
Disease: Primary Hyperoxaluria
Primary Hyperoxaluria 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 7 1990 2014