Disease: Short ribs
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs758522600
BBS10
0.851 0.240 12 76347023 frameshift variant CTAA/- delins 4.0E-06 2.8E-05 7
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