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: 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: 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: 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: rs180177273
rs180177273 		0.925 0.160 2 240875974 frameshift variant AG/-;AGAG 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 2004 2004
dbSNP: rs763751076
rs763751076 		0.925 0.160 2 240875132 missense variant C/T snv 1.2E-05 6.3E-05
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		Nutritional and Metabolic Diseases 0.010 1.000 1 2017 2017
dbSNP: rs763751076
rs763751076 		0.925 0.160 2 240875132 missense variant C/T snv 1.2E-05 6.3E-05
CUI: C0085580
Disease: Essential Hypertension
Essential Hypertension 		Cardiovascular Diseases 0.010 1.000 1 2004 2004
dbSNP: rs763751076
rs763751076 		0.925 0.160 2 240875132 missense variant C/T snv 1.2E-05 6.3E-05
CUI: C0001206
Disease: Acromegaly
Acromegaly 		Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases 0.010 1.000 1 2017 2017
dbSNP: rs121908530
rs121908530 		1.000 0.160 2 240871391 missense variant G/A;C snv 3.1E-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 25 1991 2014
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: 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: 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: rs536352238
rs536352238 		1.000 0.160 2 240873987 missense variant T/A;C 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 21 1991 2014
dbSNP: rs180177197
rs180177197 		1.000 0.160 2 240869326 missense variant T/C 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 11 1998 2014
dbSNP: rs180177225
rs180177225 		1.000 0.160 2 240871398 stop gained C/A;T snv 4.4E-06; 4.4E-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 9 2005 2015
dbSNP: rs180177238
rs180177238 		1.000 0.160 2 240873014 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 9 1992 2015
dbSNP: rs180177156
rs180177156 		1.000 0.160 2 240878128 missense variant G/A;T snv 4.4E-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 7 1998 2015
dbSNP: rs180177239
rs180177239 		1.000 0.160 2 240873022 missense variant G/A snv 4.4E-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 7 1998 2014
dbSNP: rs180177253
rs180177253 		1.000 0.160 2 240874035 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 7 2003 2012
dbSNP: rs180177286
rs180177286 		1.000 0.160 2 240877534 splice region variant C/A;G;T snv 4.6E-05; 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 7 2000 2015
dbSNP: rs180177207
rs180177207 		1.000 0.160 2 240869350 missense variant G/A snv 4.3E-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 6 1999 2014
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: 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: rs180177195
rs180177195 		1.000 0.160 2 240869306 missense variant T/C snv 3.2E-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 4 2009 2013
dbSNP: rs180177301
rs180177301 		1.000 0.160 2 240878055 frameshift variant G/- del 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 1.000 4 1999 2014