Source: CLINVAR ×
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
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
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
rs886039811
B9D1
0.807 0.320 17 19357875 missense variant A/G snv 4.0E-06 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
rs786205508
MKS1
0.851 0.200 17 58208542 stop gained G/A snv 5
rs886039791
TXNDC15
0.882 0.160 5 134893572 inframe deletion AGTTTGGCCCCTCAC/- delins 5
rs281875322
SMAD4
0.807 0.480 18 51078306 missense variant A/G snv 4.0E-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
rs886039803
MKS1
0.925 0.120 17 58216664 splice donor variant A/T snv 3
rs118203918
CILK1
0.882 0.160 6 53016099 missense variant C/T snv 4.0E-06 1
rs28933372
GLI3
0.827 0.120 7 41966273 missense variant C/G snv 1