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: rs138584408
rs138584408 		1.000 0.160 2 240868867 start lost T/C snv 4.6E-05 7.0E-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 1.000 2 2004 2014
dbSNP: rs180177194
rs180177194 		1.000 0.160 2 240868867 start lost TG/AT mnv
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 2007 2007
dbSNP: rs180177213
rs180177213 		1.000 0.160 2 240868868 start lost G/T 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: rs796052057
rs796052057 		1.000 0.160 2 240868887 missense variant G/A;C;T snv 4.1E-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 0
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: rs180177201
rs180177201 		0.925 0.160 2 240868891 frameshift variant CC/-;C;CCC 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 2 2004 2017
dbSNP: rs180177191
rs180177191 		1.000 0.160 2 240868893 missense variant C/A;G;T snv 4.1E-05; 4.1E-06; 8.1E-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: rs34116584
rs34116584 		1.000 0.160 2 240868897 missense variant C/A;G;T snv 3.8E-04; 1.6E-04; 0.15
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 0.740 1.000 5 1995 2013
dbSNP: rs180177262
rs180177262 		1.000 0.160 2 240868939 missense variant T/G 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 0.700 1.000 1 2007 2007
dbSNP: rs180177268
rs180177268 		1.000 0.160 2 240868942 missense variant T/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 2007 2007
dbSNP: rs180177278
rs180177278 		1.000 0.160 2 240868947 frameshift variant C/- 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 1 2009 2009
dbSNP: rs180177157
rs180177157 		1.000 0.160 2 240868971 missense variant C/T snv 4.0E-06 2.1E-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 2004 2014
dbSNP: rs180177162
rs180177162 		1.000 0.160 2 240868972 missense variant G/A snv 1.2E-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 0.700 1.000 1 2009 2009
dbSNP: rs180177166
rs180177166 		1.000 0.160 2 240868980 frameshift variant -/CA 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 2 2006 2015
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: rs180177171
rs180177171 		1.000 0.160 2 240868986 frameshift variant G/-;GG 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 2 2007 2015
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: 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: rs180177168
rs180177168 		0.925 0.160 2 240868987 missense variant G/A;C;T snv 4.0E-06
CUI: C0020500
Disease: Hyperoxaluria
Hyperoxaluria 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2010 2010
dbSNP: rs180177170
rs180177170 		1.000 0.160 2 240868990 missense variant G/A snv 8.1E-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: rs180177172
rs180177172 		1.000 0.160 2 240868995 stop gained C/T 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 2 1999 2001
dbSNP: rs180177173
rs180177173 		1.000 0.160 2 240869004 missense variant G/A;C snv 2.5E-05; 4.1E-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 0.800 1.000 2 2007 2012
dbSNP: rs180177177
rs180177177 		1.000 0.160 2 240869169 splice acceptor variant 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 2004 2004
dbSNP: rs180177180
rs180177180 		1.000 0.160 2 240869171 missense variant T/A;G snv 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 0.700 1.000 1 2009 2009