Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs886039469
KCNMA1-AS1 ; KCNMA1
0.701 0.560 10 76891709 missense variant T/C snv 35
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 28
rs387906686
SCN2A
0.742 0.320 2 165310413 missense variant C/A;T snv 23
rs1555630216
PIEZO2
0.790 0.160 18 10714931 splice acceptor variant C/T snv 22
rs1555648288
PIEZO2
0.790 0.160 18 10795003 splice acceptor variant C/T snv 22
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs1559759089
ATP6V1A
0.827 0.200 3 113795101 missense variant C/A snv 14
rs886041347
NF1
0.790 0.320 17 31229061 stop gained C/T snv 13
rs1554904159
BRSK2 ; LOC107984298
0.851 0.160 11 1442607 splice donor variant G/A snv 11