Source: CURATED

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs879255655
ABCG5 ; DYNC2LI1
0.882 0.120 2 43809711 stop gained G/T snv 4
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
rs879255656
DYNC2LI1
0.882 0.120 2 43805249 splice region variant A/G snv 4
rs137853105
MKS1
0.882 0.160 17 58206479 missense variant A/C snv 5.6E-05 2.8E-05 4
rs281875322
SMAD4
0.807 0.480 18 51078306 missense variant A/G snv 4.0E-06 4
rs886039803
MKS1
0.925 0.120 17 58216664 splice donor variant A/T snv 3
rs28933372
GLI3
0.827 0.120 7 41966273 missense variant C/G snv 2
rs1163162816
WNT10B
0.925 0.080 12 48968320 splice acceptor variant C/G;T snv 7.0E-06 2
rs121912765
BMP4
0.925 0.240 14 53951945 missense variant T/C snv 2.4E-05 7.0E-06 1
rs118203918
CILK1
0.882 0.160 6 53016099 missense variant C/T snv 4.0E-06 1
rs912923677
MKKS
0.851 0.240 20 10407704 missense variant T/C snv 4.0E-06 1