Gene: BBS1 ×
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: rs113624356
rs113624356
BBS1 ; ZDHHC24
22 0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 0.700 1.000 2 2002 2019
dbSNP: rs376894444
rs376894444
BBS1
2 0.925 0.120 11 66515586 missense variant G/A snv 2.8E-05 2.8E-05 0.700 1.000 1 2005 2005
dbSNP: rs1555050487
rs1555050487
BBS1 ; ZDHHC24
1 1.000 0.080 11 66531967 frameshift variant A/- delins 0.700 0