Gene: BBS9 ×
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: rs749974697
rs749974697
BBS9
5 0.851 0.240 7 33152851 stop gained C/A;T snv 4.0E-06; 1.6E-05 0.700 0
dbSNP: rs775081992
rs775081992
BBS9
5 0.851 0.240 7 33152811 stop gained C/T snv 2.0E-05 0.700 0
dbSNP: rs886039799
rs886039799
BBS9
17 0.763 0.320 7 33273896 frameshift variant C/- del 0.700 0
dbSNP: rs886039801
rs886039801
BBS9
6 0.851 0.240 7 33388145 splice donor variant G/A snv 0.700 0