POC1B, POC1 centriolar protein B, 282809

N. diseases: 40; N. variants: 11
Disease: Cone Dystrophy ×
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: rs76216585
rs76216585 		0.807 0.160 12 89492071 stop gained C/A;G;T snv 8.5E-06; 2.7E-04
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		Eye Diseases 0.010 1.000 1 2014 2014