Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1057516451
rs1057516451
BBS1
1 1.000 0.120 11 66514469 frameshift variant CT/- del 0.700 1.000 2 2003 2011