Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121917893
NLGN3
0.807 0.160 X 71167508 missense variant C/T snv 10
rs28936379
PSEN2
0.807 0.120 1 226888977 missense variant A/C;G;T snv 4.0E-06 10
rs2535629
ITIH3
0.827 0.040 3 52799203 intron variant G/A;C snv 9
rs886041097
NAA15
0.882 0.160 4 139386152 stop gained C/G snv 9
rs120074125
SMPD1
0.882 0.160 11 6393301 missense variant T/G snv 4.0E-06 7
rs28939688
OPTN
0.807 0.040 10 13109270 missense variant G/A snv 7
rs112543062
GNPTAB
0.851 0.280 12 101770161 missense variant T/C;G snv 1.2E-05 6
rs121909671
FUS
0.851 0.120 16 31191419 missense variant G/A;T snv 4.0E-06 6
rs1224426272
CIT
0.925 0.040 12 119869138 missense variant C/T snv 6
rs1561515242
CAMK4
1.000 0.080 5 111482938 splice donor variant G/A snv 6
rs5177
LRP8
0.851 0.120 1 53246063 3 prime UTR variant G/A;C snv 6
rs1060499679
GNPTAB
0.851 0.280 12 101770496 inframe deletion GTG/- delins 5
rs1554776954
STXBP1
1.000 9 127661133 frameshift variant A/- delins 5
rs375382379
NR3C1
0.882 0.160 5 143399792 missense variant T/C snv 4.0E-06 5
rs752834812
NR3C1
0.882 0.160 5 143399885 missense variant T/C snv 8.0E-06 5
rs772651364
NR3C1
0.882 0.160 5 143400050 missense variant C/T snv 4.0E-06 5
rs104894127
TPM2
0.925 0.080 9 35685750 missense variant G/C snv 4
rs1133503
MANEA
1.000 0.040 6 95606712 3 prime UTR variant C/G;T snv 4
rs121918805
LOC102724058 ; SCN1A-AS1 ; SCN1A
0.925 0.080 2 166002660 missense variant C/A;T snv 2.0E-05 4
rs1553510492
TBR1
2 161419040 missense variant A/G snv 4
rs1554121671
SYNGAP1
1.000 6 33440746 frameshift variant -/AGGA delins 4
rs1555103646
GRIN2B
1.000 0.040 12 13569964 missense variant C/A snv 4
rs2144025
ESR1
0.925 0.080 6 151986571 intron variant T/A;C snv 4
rs4916723
LINC00461
0.925 0.040 5 88558577 intron variant A/C;G;T snv 4
rs137853208
FIGNL1 ; DDC
0.925 0.080 7 50504025 missense variant G/A snv 3