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: rs758522600
rs758522600
0.851 0.240 12 76347023 frameshift variant CTAA/- delins 4.0E-06 2.8E-05
CUI: C0008732
Disease: Chylous Ascites
Chylous Ascites
Digestive System Diseases 0.700 0