INVS, inversin, 27130

N. diseases: 74; N. variants: 14
Disease: Nephronophthisis ×
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: rs878855333
rs878855333 		1.000 0.080 9 100300600 frameshift variant A/- delins
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2013 2013