Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs121918467
PTPN11
0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 23
rs1555154946
ARID2 ; LOC105369745
0.827 0.120 12 45850644 stop gained C/T snv 16
rs397507547
PTPN11
0.752 0.280 12 112489086 missense variant A/G snv 4.0E-06 14
rs397507514
PTPN11
0.790 0.240 12 112450408 missense variant G/C;T snv 10
rs397507539
PTPN11
0.851 0.160 12 112489047 missense variant C/A;G;T snv 4.0E-06 8
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 16
rs1566911709
FBN1
0.742 0.240 15 48495502 frameshift variant T/- delins 15
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins 9
rs1555395001
FBN1
0.807 0.200 15 48434600 missense variant A/G snv 8
rs1566913974
FBN1
0.807 0.200 15 48505029 missense variant A/C snv 8
rs180177135
PALB2
0.716 0.520 16 23607891 frameshift variant T/- del 2.1E-05 27
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 31
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1568718508
RIN2
1.000 0.200 20 19992201 frameshift variant -/C delins 6
rs375761361
POLR3H ; ACO2
0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05 9
rs864309499
ACO2 ; POLR3H
0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06 9
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 23
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs1556411578
COL4A5
X 108595507 coding sequence variant AAGGTGACA/- delins 4