Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057519404
MECP2
1.000 0.080 X 154030716 frameshift variant -/G delins 2
rs1057519405
SYNGAP1
1.000 0.160 6 33440735 frameshift variant C/- delins 2
rs1057519406
SHANK3
1.000 0.080 22 50684651 missense variant G/T snv 2
rs1057519408
KMT2A
1.000 0.240 11 118499340 frameshift variant TTGT/- delins 2
rs1057519429
CACNA1A
0.807 0.240 19 13235666 missense variant C/G;T snv 15
rs1057519443
MPP4
0.882 0.200 2 201675255 missense variant A/G snv 7
rs1057519565
DEAF1
0.851 0.200 11 687941 missense variant C/T snv 9
rs1057519622
WDR45
1.000 0.080 X 49078038 splice donor variant AC/- delins 2
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv 5
rs1057524031
NAA10 ; ARHGAP4
X 153932422 missense variant G/A snv 1
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs1060499737
DHX37
12 124968903 missense variant G/T snv 3
rs1060499738
ACTL6B
1.000 7 100647014 missense variant C/T snv 7.0E-06 2
rs1060499739
CEP97
1.000 3 101757754 missense variant A/G snv 2
rs1060499740
CINP
14 102348559 stop lost A/C snv 3
rs1060499744
ASH2L
1.000 8 38138822 missense variant A/G snv 2
rs1060505033
ZNF711
1.000 0.200 X 85264383 missense variant T/C snv 2
rs1064793829
GATAD2B
0.882 0.160 1 153816571 frameshift variant A/- delins 5
rs1064795104
EXOC6B
0.790 0.440 2 72498492 stop gained A/C snv 17
rs1064795945
ASPM
1.000 0.120 1 197102332 frameshift variant AAGT/- delins 5
rs1064796738
KIF11
1.000 0.240 10 92606655 stop gained C/T snv 5
rs1064797102
OTUD6B-AS1 ; OTUD6B
0.827 0.120 8 91071136 splice acceptor variant A/G snv 15
rs1064797103
OTUD6B
0.827 0.280 8 91078597 missense variant A/G snv 9
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs1085308044
PTEN ; KLLN
0.882 0.120 10 87864504 missense variant A/C snv 5