BBS2, Bardet-Biedl syndrome 2, 583

N. diseases: 128; N. variants: 60
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: rs147030232
rs147030232 		0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06
CUI: C0730290
Disease: Cone Dystrophy
Cone Dystrophy 		Eye Diseases 0.700 0