Source: ALL
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
rs549625604
BBS10
0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 13
rs786205636
BBS5
0.827 0.320 2 169493750 missense variant G/A snv 7
rs1553794304
PIGX ; CEP19
0.851 0.160 3 196707860 stop gained -/T delins 6
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
rs886039802
BBS4
0.851 0.200 15 72712259 stop gained C/T snv 6
rs797044604
CEP290
0.827 0.280 12 88086450 stop gained C/A snv 5
rs886039798
ZDHHC24 ; BBS1
0.925 0.120 11 66529902 frameshift variant -/T delins 4
rs1555202806
BBS10
1.000 0.120 12 76348313 frameshift variant AACGCCGC/- delins 3
rs606231137
BBS9
0.882 0.120 7 33383752 frameshift variant AACA/- delins 3
rs1057516533
ZDHHC24 ; BBS1
0.925 0.120 11 66523842 frameshift variant T/- delins 2
rs1060503690
ZDHHC24 ; BBS1
0.925 0.120 11 66526708 stop gained G/T snv 2
rs1064796315
BBS10
0.925 0.120 12 76345955 frameshift variant C/- delins 2.8E-05 2
rs113994189
BBS4
0.925 0.120 15 72709480 intron variant A/- delins 2
rs113994191
BBS4
0.925 0.120 15 72722792 splice acceptor variant A/C;G snv 2
rs1156913215
BBS10
0.925 0.120 12 76347219 stop gained G/A;C snv 2
rs121908581
BBS5
0.925 0.120 2 169487811 missense variant G/A snv 7.0E-06 2
rs1269565757
BBS12
0.925 0.120 4 122743267 stop gained C/T snv 1.4E-05 2
rs137852857
BBS9
0.925 0.120 7 33177570 missense variant G/A snv 2
rs137852858
BBS9
0.925 0.120 7 33336487 stop gained C/T snv 2
rs1397714772
BBS12
0.925 0.120 4 122742155 frameshift variant TT/- delins 1.4E-05 2
rs1553941369
BBS12
0.925 0.120 4 122742900 frameshift variant GT/- delins 2
rs1555202584
BBS10
0.925 0.120 12 76346308 frameshift variant G/- del 2
rs193922710
BBS2
0.925 0.120 16 56502382 stop gained G/A snv 2