Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs1565706229
EED ; MIR6755
0.851 0.120 11 86277110 missense variant T/C snv 18
rs759125480
CEP120
0.827 0.160 5 123377409 stop gained G/A snv 1.6E-05 16
rs1135401744
KYNU
0.776 0.120 2 142918608 splice acceptor variant G/T snv 1.4E-04 14
rs746800707
AAR2
0.851 0.160 20 36240388 missense variant G/A;C;T snv 1.2E-05; 4.0E-06 8