Disease: Polydactyly
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
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 17
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del 17
rs121908175
BBS2
0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05 8
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
rs749974697
BBS9
0.851 0.240 7 33152851 stop gained C/A;T snv 4.0E-06; 1.6E-05 5