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: 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: 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: 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: 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: 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: 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: 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: 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: 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: 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
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
dbSNP: rs180177259
rs180177259 		1.000 0.160 2 240875165 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 3 2007 2014
dbSNP: rs180177267
rs180177267 		1.000 0.160 2 240875934 splice acceptor variant G/C snv 1.6E-05 1.4E-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 0.700 1.000 3 2004 2007
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: 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: rs1553648488
rs1553648488 		1.000 0.160 2 240870688 frameshift variant -/CTGCA 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 2016 2017
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: 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: 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: rs180177184
rs180177184 		1.000 0.160 2 240869246 stop gained C/A;T 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 2 2009 2014
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