BBS1, Bardet-Biedl syndrome 1, 582

N. diseases: 111; N. variants: 70
Disease: obsolete Rod-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: rs113624356
rs113624356 		0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 0
dbSNP: rs775769424
rs775769424 		0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05
CUI: C4072872
Disease: obsolete Rod-cone dystrophy
obsolete Rod-cone dystrophy 		0.700 0