Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del 17
rs886039801
BBS9
0.851 0.240 7 33388145 splice donor variant G/A snv 6
rs749974697
BBS9
0.851 0.240 7 33152851 stop gained C/A;T snv 4.0E-06; 1.6E-05 5
rs775081992
BBS9
0.851 0.240 7 33152811 stop gained C/T snv 2.0E-05 5
rs606231137
BBS9
0.882 0.120 7 33383752 frameshift variant AACA/- delins 3
rs137852856
BBS9
0.925 0.120 7 33383668 stop gained C/T snv 8.4E-06 2.8E-05 2
rs137852858
BBS9
0.925 0.120 7 33336487 stop gained C/T snv 2
rs201938124
BBS9
0.925 0.120 7 33367863 splice donor variant G/A;C;T snv 4.0E-06; 8.0E-06 2
rs137852857
BBS9
0.925 0.120 7 33177570 missense variant G/A snv 1
rs137962929
BBS9
1.000 0.120 7 33152852 splice donor variant G/A snv 2.4E-05 7.0E-06 1
rs1562686929
BBS9
1.000 0.120 7 33152699 splice acceptor variant A/G snv 1
rs1562917450
BBS9
1.000 0.120 7 33273036 missense variant G/A snv 1
rs1563049863
BBS9
1.000 0.120 7 33352875 splice donor variant T/A snv 1
rs370916293
BBS9
1.000 0.120 7 33152855 stop lost A/C;G snv 4.0E-06 1
rs747388658
BBS9
1.000 0.120 7 33155682 frameshift variant TT/-;T delins 7.3E-05; 8.1E-06 1
rs762511626
BBS9
1.000 0.120 7 33349108 stop gained T/A;C snv 8.0E-06 1
rs863224534
BBS9
1.000 0.120 7 33349161 stop gained G/T snv 4.0E-06 1