Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs587777893
rs587777893
MTOR
67 0.658 0.240 1 11128107 missense variant G/A;T snv 0.700 1.000 1 2016 2016
dbSNP: rs1567782714
rs1567782714
ADGRG1
5 0.882 0.120 16 57655528 stop gained C/T snv 0.700 0
dbSNP: rs587783579
rs587783579
DCX
2 1.000 0.080 X 111401014 frameshift variant T/-;TT delins 0.700 0
dbSNP: rs749203329
rs749203329
MLLT1
7 0.882 0.080 19 6213787 missense variant C/T snv 2.0E-05 1.4E-05 0.700 0
dbSNP: rs797045510
rs797045510
DCX
1 X 111410375 frameshift variant AA/- delins 0.700 0
dbSNP: rs797045512
rs797045512
DCX
1 X 111410119 missense variant T/C snv 0.700 0
dbSNP: rs797045513
rs797045513
DCX
1 X 111410083 inframe insertion -/GTA delins 0.700 0
dbSNP: rs797045514
rs797045514
DCX
1 X 111410059 frameshift variant -/G delins 0.700 0
dbSNP: rs797045515
rs797045515
DCX
1 X 111401167 frameshift variant A/- delins 0.700 0
dbSNP: rs797045518
rs797045518
DCX
1 X 111400995 inframe insertion -/TCCATCCAGAGTGTA delins 0.700 0
dbSNP: rs797045519
rs797045519
DCX
1 X 111410313 frameshift variant -/TAGGC delins 0.700 0
dbSNP: rs797045520
rs797045520
DCX
1 X 111330974 frameshift variant -/T delins 0.700 0