Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs377619533
ASXL3
1.000 18 33743312 stop gained C/A;T snv 2.8E-05 5
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv 5
rs370266293
HEXA
0.925 0.160 15 72346679 missense variant C/G;T snv 1.0E-04 5
rs1057519567
MDH2
0.882 0.040 7 76063554 frameshift variant G/- delins 5
rs869312698
MEF2C
0.925 0.160 5 88804785 missense variant C/T snv 5
rs869312671
MTOR ; MTOR-AS1
0.882 0.160 1 11144735 missense variant C/T snv 5
rs778899140
PDE10A
0.925 6 165450268 missense variant T/C snv 4.0E-06 5
rs145999922
SLC19A3
0.882 0.040 2 227699378 missense variant A/G snv 4.4E-05 4.2E-05 5
rs1561498701
SMN1 ; SMN2
1.000 0.080 5 70925150 frameshift variant -/GGATTCCG delins 5
rs1057518845
SOX5 ; LOC105369696
0.925 0.120 12 23755726 splice acceptor variant T/G snv 5
rs1057519444
SYN3
0.925 0.120 22 32518208 missense variant GG/AA mnv 5
rs1057518786
SYNGAP1
1.000 6 33441374 splice region variant G/A snv 5
rs1569146993
TCF20
0.851 0.320 22 42211700 frameshift variant -/C delins 5
rs724159991
TMEM186 ; ABAT
1.000 0.080 16 8781360 missense variant T/C snv 5
rs765468645
TMEM67
0.882 0.160 8 93765413 stop gained C/T snv 8.0E-06 2.1E-05 5
rs878855331
TPP1
0.925 0.120 11 6617319 splice donor variant AAGGCCTGTGGAAGCTGGTAGGGATGTGGGGACC/- delins 5
rs1057519437
EBF3
0.851 0.240 10 129957300 missense variant C/T snv 6
rs878853165
HOOK2 ; MAST1
0.882 0.200 19 12843558 missense variant C/T snv 6
rs879253887
IGHMBP2
0.925 0.120 11 68934542 missense variant C/T snv 4.1E-06 6
rs1555889127
KCNB1 ; LOC105372649
1.000 0.040 20 49374625 missense variant C/T snv 6
rs878853325
PPT1
0.851 0.240 1 40089414 frameshift variant C/- delins 6
rs1557106484
ATRX
X 77633315 missense variant C/A snv 7
rs886039812
DYNC2H1
0.882 0.160 11 103155395 missense variant T/G snv 7
rs371582179
GLB1
0.827 0.280 3 33014057 missense variant T/C snv 3.6E-05 6.3E-05 7
rs1135401746
GNB1
0.827 0.400 1 1806512 missense variant C/G snv 7