Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs113994189
BBS4
0.925 0.120 15 72709480 intron variant A/- delins 2
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 12
rs121908175
BBS2
0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05 8
rs1553794304
PIGX ; CEP19
0.851 0.160 3 196707860 stop gained -/T delins 6
rs886039802
BBS4
0.851 0.200 15 72712259 stop gained C/T snv 6
rs567573386
BBS2
0.882 0.120 16 56484820 stop gained G/A snv 3.2E-05 1.4E-05 5
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
rs121908177
BBS2
0.882 0.120 16 56502790 stop gained G/A snv 1.9E-04 9.8E-05 3
rs104893678
ARL6
0.925 0.120 3 97788004 stop gained C/T snv 8.0E-06 2
rs1060503690
ZDHHC24 ; BBS1
0.925 0.120 11 66526708 stop gained G/T snv 2
rs1156913215
BBS10
0.925 0.120 12 76347219 stop gained G/A;C snv 2
rs121908176
BBS2
0.925 0.120 16 56514623 stop gained G/A snv 2.0E-05 1.4E-05 2
rs121917777
ZDHHC24 ; BBS1
0.925 0.120 11 66531692 stop gained G/A;T snv 4.0E-06; 1.6E-05 2
rs1269565757
BBS12
0.925 0.120 4 122743267 stop gained C/T snv 1.4E-05 2
rs1273181642
BBS2
0.925 0.120 16 56510004 stop gained G/A snv 8.0E-06 7.0E-06 2
rs1306231185
MKKS
0.925 0.120 20 10407645 stop gained -/TTCA delins 4.0E-06 7.0E-06 2
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
rs193922710
BBS2
0.925 0.120 16 56502382 stop gained G/A snv 2
rs201063733
BBS2
0.925 0.120 16 56497063 stop gained G/C snv 8.0E-06 7.0E-06 2
rs201196733
BBS2
0.925 0.120 16 56497013 stop gained G/A;C snv 2.8E-05; 4.0E-06 2
rs375413604
BBS10
0.925 0.120 12 76346308 stop gained G/A;C;T snv 2.0E-05; 4.0E-06; 4.0E-05 2
rs515726134
PDCD4 ; BBIP1
0.925 0.120 10 110900466 stop gained A/C snv 7.2E-06 1.4E-05 2