IQCB1, IQ motif containing B1, 9657

N. diseases: 69; N. variants: 24
Disease: Retinitis Pigmentosa ×
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: rs140630401
rs140630401 		1.000 0.080 3 121772683 missense variant C/T snv 1.1E-03 1.4E-03
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019
dbSNP: rs398123538
rs398123538 		0.882 0.200 3 121772605 frameshift variant TG/- delins 8.0E-05 7.0E-05
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2019 2019