Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs730882213
ADAT3 ; SCAMP4
0.925 0.080 19 1912477 missense variant G/A snv 7.0E-06 4
rs61751367
MECP2
0.925 0.080 X 154030939 stop gained G/A snv 3
rs735555
CDK5R1
0.925 0.080 17 32490432 3 prime UTR variant C/T snv 0.30 3
rs786201003
NALCN
0.925 0.080 13 101083752 missense variant C/T snv 3
rs121434612
PAK3
1.000 0.080 X 111142119 missense variant C/T snv 2
rs121917899
PQBP1
1.000 0.080 X 48901944 missense variant A/G snv 2
rs1287153074
FOXP1
1.000 0.080 3 70977021 missense variant T/C snv 4.0E-06 7.0E-06 2
rs1294642759
FOXP1
1.000 0.080 3 70959372 missense variant C/T snv 2
rs281860639
MIR6894 ; KDM5C
1.000 0.080 X 53199048 stop gained G/T snv 2
rs770896677
TMTC3
1.000 0.080 12 88153313 missense variant G/A;C snv 1.2E-05; 4.0E-06 2
rs587777623
DEAF1
0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 8
rs869312966
SCN8A
0.827 0.120 12 51806345 missense variant G/T snv 7
rs879255652
SCN8A
0.807 0.120 12 51790425 stop gained G/A;T snv 7
rs1057519087
MFSD2A
0.925 0.120 1 39967632 missense variant C/T snv 7.0E-06 4
rs104886492
HSD17B10
1.000 0.120 X 53432410 missense variant A/G snv 3
rs1131692042
RPL10 ; SNORA70
0.925 0.120 X 154399803 missense variant C/T snv 3
rs199590018
SYP
0.925 0.120 X 49193294 missense variant G/A snv 1.4E-04 7.5E-05 3
rs887386390
L2HGDH
0.925 0.120 14 50283990 missense variant T/C snv 3
rs1047322213
PQBP1
1.000 0.120 X 48902470 missense variant G/A snv 2
rs1372862248
GPT2
1.000 0.120 16 46926991 missense variant G/A snv 2
rs376285784
TSC2
1.000 0.120 16 2064342 missense variant G/A snv 1.2E-05 2.1E-05 2
rs74900327
SMN2
1.000 0.120 5 70049747 missense variant T/C snv 2
rs1554032789
NIPBL
0.925 0.160 5 37048547 missense variant T/A snv 13
rs781908532
SLC25A1
0.827 0.160 22 19176585 missense variant C/A;T snv 4.0E-06; 1.6E-05 7.0E-06 8
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv 5