IQCB1, IQ motif containing B1, 9657

N. diseases: 69; N. variants: 24
Disease: Leber Congenital Amaurosis ×
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: rs387907009
rs387907009 		0.882 0.200 3 121790166 stop gained C/A snv 1.2E-05
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 1.000 1 2011 2011
dbSNP: rs750962965
rs750962965 		0.882 0.200 3 121808978 frameshift variant AA/- delins 1.0E-04 1.4E-04
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 1.000 1 2005 2005
dbSNP: rs1553722736
rs1553722736 		1.000 0.040 3 121828473 stop gained A/C snv
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0
dbSNP: rs201405662
rs201405662 		1.000 0.040 3 121828519 stop gained G/A;C snv 3.6E-05; 8.0E-06
CUI: C0339527
Disease: Leber Congenital Amaurosis
Leber Congenital Amaurosis 		Eye Diseases 0.700 0