Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 38
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 25
rs1135401778
BPTF
0.752 0.400 17 67854315 frameshift variant T/- del 20
rs12720458
KCNQ1
0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 20
rs1425998598
BPTF
0.763 0.240 17 67918802 missense variant G/A;C snv 1.2E-05 19
rs1555639076
BPTF
0.790 0.400 17 67893677 splice donor variant A/- delins 16
rs782736894
BPTF
0.827 0.280 17 67975841 missense variant T/C;G snv 4.0E-06 7.0E-06 16
rs587783772
MTM1
0.776 0.200 X 150659665 missense variant G/A;T snv 14
rs1569525894
SLC9A6
0.790 0.280 X 136040055 frameshift variant TCTTCCTTAACCACCGC/- delins 14
rs1555652383
BPTF
0.807 0.160 17 67912720 frameshift variant TG/- delins 13
rs1555649483
BPTF
0.851 0.200 17 67909751 splice donor variant GAAGGACCAAGG/- del 12
rs1555639411
BPTF
0.790 0.360 17 67894102 frameshift variant -/G delins 10
rs772887102
RARS2
0.807 0.200 6 87548623 missense variant A/C snv 2.2E-04 2.8E-05 9
rs781417096
RARS2
0.807 0.200 6 87514995 frameshift variant T/- delins 1.6E-05 7.0E-06 9
rs1555693714
BPTF
0.882 0.120 17 67975933 stop gained A/T snv 5
rs1556910184
HUWE1
0.882 0.240 X 53534615 missense variant C/G snv 4