Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs751375244
TRAPPC3
0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05 6
rs200750564
HOXD13
0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06 6
rs201948500
DYNC2LI1
0.882 0.120 2 43794485 missense variant C/G snv 2.4E-05 4.9E-05 4
rs374356079
DYNC2LI1
0.882 0.120 2 43805247 splice donor variant G/A snv 2.0E-05 7.0E-06 4
rs769975073
DYNC2LI1
0.882 0.120 2 43794508 stop gained G/A snv 6.0E-05 7.0E-06 4
rs879255655
ABCG5 ; DYNC2LI1
0.882 0.120 2 43809711 stop gained G/T snv 4
rs879255656
DYNC2LI1
0.882 0.120 2 43805249 splice region variant A/G snv 4
rs1553794304
PIGX ; CEP19
0.851 0.160 3 196707860 stop gained -/T delins 6
rs121908425
EVC ; CRMP1
0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 14
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 12
rs753317536
EVC
0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 12
rs886039792
TXNDC15
0.807 0.280 5 134874531 splice donor variant G/A snv 9
rs886039791
TXNDC15
0.882 0.160 5 134893572 inframe deletion AGTTTGGCCCCTCAC/- delins 5
rs118203918
CILK1
0.882 0.160 6 53016099 missense variant C/T snv 4.0E-06 1
rs886039799
BBS9
0.763 0.320 7 33273896 frameshift variant C/- del 17
rs879255280
SMO
0.701 0.200 7 129206557 missense variant C/T snv 15
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
rs775081992
BBS9
0.851 0.240 7 33152811 stop gained C/T snv 2.0E-05 5
rs28933372
GLI3
0.827 0.120 7 41966273 missense variant C/G snv 1
rs1085307138
PUF60 ; SCRIB
0.807 0.160 8 143817591 splice donor variant C/T snv 9
rs113624356
BBS1 ; ZDHHC24
0.724 0.400 11 66526181 missense variant T/G snv 1.5E-03 2.1E-03 17
rs1565329461
DYNC2H1
0.851 0.200 11 103135949 splice donor variant G/A snv 9
rs137852832
CEP290
0.716 0.280 12 88077263 stop gained C/A snv 9.5E-05 6.3E-05 17
rs758522600
BBS10
0.851 0.240 12 76347023 frameshift variant CTAA/- delins 4.0E-06 2.8E-05 7