BBS10, Bardet-Biedl syndrome 10, 79738

N. diseases: 63; N. variants: 108
Disease: Mesoaxial hand polydactyly ×
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: rs549625604
rs549625604 		0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04
CUI: C4021606
Disease: Mesoaxial hand polydactyly
Mesoaxial hand polydactyly 		0.700 0