Disease: Developmental regression
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs727502818
KCNC1
0.790 0.160 11 17772053 missense variant G/A snv 26
rs748787734
TUBB4A
0.827 0.240 19 6495437 missense variant G/A;C snv 1.2E-05 13