Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121913482
FGFR3
0.630 0.680 4 1801837 missense variant C/T snv 35
rs137853027
DYNC2H1
0.827 0.120 11 103220720 missense variant A/G snv 2.4E-04 2.6E-04 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
rs1565329461
DYNC2H1
0.851 0.200 11 103135949 splice donor variant G/A snv 9
rs371011047
DYNC2H1
0.882 0.120 11 103120982 stop gained G/T snv 2.8E-05 9
rs764926983
DYNC2H1
0.882 0.120 11 103287559 synonymous variant G/A snv 1.2E-05 9
rs771148519
WDR19
0.807 0.200 4 39225027 stop gained C/G snv 1.7E-05 1.4E-05 9
rs1260978141
DYNC2H1
1.000 0.120 11 103125293 stop gained C/T snv 4.5E-06 8
rs752659088
KIAA0753
0.882 0.240 17 6624770 synonymous variant G/A snv 6.5E-05 8
rs758522600
BBS10
0.851 0.240 12 76347023 frameshift variant CTAA/- delins 4.0E-06 2.8E-05 7
rs1565311145
DYNC2H1
0.882 0.120 11 103116677 stop gained T/A snv 7
rs767846762
DYNC2H1
0.882 0.120 11 103176241 frameshift variant AA/- delins 1.0E-05 7
rs1565317399
DYNC2H1
0.882 0.120 11 103122879 stop gained C/T snv 6
rs376892534
DYNC2H1
0.925 0.120 11 103184880 intron variant G/A snv 8.1E-06 6
rs771487311
DYNC2H1
0.882 0.120 11 103255530 missense variant T/C snv 1.9E-05 7.0E-05 5
rs1566883760
KIAA0586
0.925 0.120 14 58487978 frameshift variant T/- delins 5
rs886039815
TCTEX1D2
0.851 0.320 3 196306939 splice region variant T/A snv 5
rs747165335
WDR19
0.882 0.200 4 39278156 frameshift variant ACGG/- delins 8.4E-06 5
rs879255655
ABCG5 ; DYNC2LI1
0.882 0.120 2 43809711 stop gained G/T snv 4
rs759549373
DYNC2H1
0.925 0.080 11 103253342 missense variant G/A;T snv 6.0E-05; 4.0E-06 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