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: rs180177321
rs180177321
0.925 0.160 9 37432135 frameshift variant TG/- 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 1 2014 2014
dbSNP: rs119490108
rs119490108
0.925 0.160 9 37426545 stop gained C/T snv 1.4E-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 0.700 0
dbSNP: rs180177314
rs180177314
0.925 0.160 9 37429732 missense variant G/A snv 1.2E-04 4.2E-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 0.700 0