BBS12, Bardet-Biedl syndrome 12, 166379

N. diseases: 49; N. variants: 43
Disease: Retinal Dystrophies ×
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: rs121918327
rs121918327 		0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		Eye Diseases 0.700 0