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: rs4344931
rs4344931 		2 240879110 3 prime UTR variant A/C;G snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2014 2014
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: 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
dbSNP: rs121908529
rs121908529 		0.851 0.160 2 240871433 missense variant G/A;C snv 5.6E-04
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 2014 2014
dbSNP: rs121908529
rs121908529 		0.851 0.160 2 240871433 missense variant G/A;C snv 5.6E-04
CUI: C0022661
Disease: Kidney Failure, Chronic
Kidney Failure, Chronic 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2014 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: rs180177161
rs180177161 		0.882 0.160 2 240878721 missense variant G/A;C snv 5.9E-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 5 2009 2017
dbSNP: rs180177227
rs180177227 		0.882 0.160 2 240871406 missense variant G/A;C;T snv 1.8E-05; 1.3E-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 5 2006 2013
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: rs180177161
rs180177161 		0.882 0.160 2 240878721 missense variant G/A;C snv 5.9E-06
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs180177161
rs180177161 		0.882 0.160 2 240878721 missense variant G/A;C snv 5.9E-06
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: rs180177227
rs180177227 		0.882 0.160 2 240871406 missense variant G/A;C;T snv 1.8E-05; 1.3E-05
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2018 2018
dbSNP: rs180177227
rs180177227 		0.882 0.160 2 240871406 missense variant G/A;C;T snv 1.8E-05; 1.3E-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: rs180177168
rs180177168 		0.925 0.160 2 240868987 missense variant G/A;C;T snv 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 10 1999 2012
dbSNP: rs180177201
rs180177201 		0.925 0.160 2 240868891 frameshift variant CC/-;C;CCC delins
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 5 1999 2007
dbSNP: rs180177273
rs180177273 		0.925 0.160 2 240875974 frameshift variant AG/-;AGAG delins
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 4 2004 2017