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
rs201948500
DYNC2LI1
0.882 0.120 2 43794485 missense variant C/G snv 2.4E-05 4.9E-05 4
rs201037487
FAM98C
0.925 0.120 19 38407003 stop gained C/G;T snv 4.0E-06; 1.4E-04; 4.0E-06 4.9E-05 7
rs751375244
TRAPPC3
0.827 0.280 1 36139776 missense variant G/A snv 1.2E-05 3.5E-05 6
rs137853105
MKS1
0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05 4
rs758522600
BBS10
0.851 0.240 12 76347023 frameshift variant CTAA/- delins 4.0E-06 2.8E-05 7
rs121908175
BBS2
0.790 0.160 16 56519791 stop gained G/C snv 5.2E-05 2.8E-05 8
rs754279998
MKS1
0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05 10
rs121918327
BBS12
0.776 0.240 4 122742955 stop gained C/T snv 2.8E-05 1.4E-05 12
rs1488635637
MKS1
0.827 0.360 17 58208003 splice acceptor variant T/C;G snv 7.0E-06 6
rs769975073
DYNC2LI1
0.882 0.120 2 43794508 stop gained G/A snv 6.0E-05 7.0E-06 4
rs200750564
HOXD13
0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06 6
rs374356079
DYNC2LI1
0.882 0.120 2 43805247 splice donor variant G/A snv 2.0E-05 7.0E-06 4
rs121912765
BMP4
0.925 0.240 14 53951945 missense variant T/C snv 2.4E-05 7.0E-06 1
rs1163162816
WNT10B
0.925 0.080 12 48968320 splice acceptor variant C/G;T snv 7.0E-06 2
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
rs121908425
EVC ; CRMP1
0.763 0.160 4 5748226 stop gained C/A;T snv 3.2E-05; 1.2E-05 14
rs753317536
EVC
0.790 0.160 4 5719239 intron variant G/A;C snv 8.0E-06; 4.0E-06 12
rs886039807
TMEM231
0.776 0.480 16 75541466 non coding transcript exon variant A/G snv 4.2E-06 11
rs1085307138
PUF60 ; SCRIB
0.807 0.160 8 143817591 splice donor variant C/T snv 9
rs1565329461
DYNC2H1
0.851 0.200 11 103135949 splice donor variant G/A snv 9
rs886039792
TXNDC15
0.807 0.280 5 134874531 splice donor variant G/A snv 9
rs147030232
BBS2
0.827 0.160 16 56501014 stop gained G/A;C snv 2.0E-05; 4.0E-06 8