BBS1, Bardet-Biedl syndrome 1, 582

N. diseases: 111; N. variants: 70
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: rs775769424
rs775769424
0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05
CUI: C0497406
Disease: Overweight
Overweight
Pathological Conditions, Signs and Symptoms 0.700 0