GLIS2, GLIS family zinc finger 2, 84662

N. diseases: 67; N. variants: 2
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: rs587777353
rs587777353 		0.882 0.120 16 4335060 missense variant T/C snv
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 1 2016 2016
dbSNP: rs878855335
rs878855335 		1.000 0.080 16 4335394 splice donor variant G/T snv
CUI: C0687120
Disease: Nephronophthisis
Nephronophthisis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 0