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
rs786205636
BBS5
0.827 0.320 2 169493750 missense variant G/A snv 7
rs886039797
BBS2
0.807 0.280 16 56502807 missense variant A/C snv 4.0E-06 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
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
rs797044604
CEP290
0.827 0.280 12 88086450 stop gained C/A snv 5
rs111033570
ASTN2 ; TRIM32
0.925 0.160 9 116699201 missense variant G/A snv 8.0E-06 4
rs138043021
BBS2
0.851 0.120 16 56496982 missense variant C/G;T snv 1.2E-04; 2.0E-05 4
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
rs104893678
ARL6
0.925 0.120 3 97788004 stop gained C/T snv 8.0E-06 2
rs1054138918
BBS5
0.925 0.120 2 169487068 splice acceptor variant G/C snv 4.0E-05 2
rs1057516533
ZDHHC24 ; BBS1
0.925 0.120 11 66523842 frameshift variant T/- delins 2
rs1057517332
BBS1 ; ZDHHC24
0.925 0.120 11 66523454 splice acceptor variant A/G snv 4.0E-06 2
rs1060503690
ZDHHC24 ; BBS1
0.925 0.120 11 66526708 stop gained G/T snv 2
rs113994179
ZDHHC24 ; BBS1
0.925 0.120 11 66523453 splice region variant C/G;T snv 4.0E-06; 4.0E-06 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
rs113994192
BBS4
0.925 0.120 15 72712242 splice acceptor variant A/G snv 4.0E-06 2
rs1156913215
BBS10
0.925 0.120 12 76347219 stop gained G/A;C snv 2