BBS10, Bardet-Biedl syndrome 10, 79738

N. diseases: 63; N. variants: 108
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: rs768933093
rs768933093
0.807 0.240 12 76348214 missense variant G/A snv 4.8E-05 4.9E-05
CUI: C0024437
Disease: Macular degeneration
Macular degeneration
Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases 0.700 0