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: rs1322951938
rs1322951938 		1.000 0.080 9 100293045 splice donor variant T/C;G snv
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2003 2003