IQCB1, IQ motif containing B1, 9657

N. diseases: 69; N. variants: 24
Disease: Large central visual field defect ×
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: rs373909351
rs373909351 		0.882 0.200 3 121772659 stop gained G/A;C snv 2.8E-05; 4.0E-06
CUI: C4025800
Disease: Large central visual field defect
Large central visual field defect 		0.700 0
dbSNP: rs398123538
rs398123538 		0.882 0.200 3 121772605 frameshift variant TG/- delins 8.0E-05 7.0E-05
CUI: C4025800
Disease: Large central visual field defect
Large central visual field defect 		0.700 0