Disease: Bardet-Biedl Syndrome
Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 17
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del 17
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 13
rs121908175
BBS2
0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05 8
rs786205636
BBS5
0.827 0.320 2 169493750 missense variant G/A snv 7
rs886039800
BBS4
0.851 0.240 15 72735944 frameshift variant G/- del 6
rs886039801
BBS9
0.851 0.240 7 33388145 splice donor variant G/A snv 6
rs121908179
BBS2
0.827 0.120 16 56514487 missense variant T/G snv 4.4E-05 2.8E-05 5
rs749974697
BBS9
0.851 0.240 7 33152851 stop gained C/A;T snv 4.0E-06; 1.6E-05 5
rs138043021
BBS2
0.851 0.120 16 56496982 missense variant C/G;T snv 1.2E-04; 2.0E-05 4