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: rs369925690
rs369925690
0.925 0.120 6 52071009 missense variant T/C;G snv 1.0E-04
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 4 2002 2010
dbSNP: rs745770404
rs745770404
0.925 0.120 6 52050157 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis
Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 4 2002 2010