Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1060503383
SYNGAP1
0.882 0.200 6 33441318 stop gained C/T snv 14
rs267607079
SOS1
0.776 0.240 2 39022772 missense variant C/A;G snv 13
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins 31
rs875989803
DDX3X
0.827 0.200 X 41343249 stop gained G/T snv 15
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs864309499
ACO2 ; POLR3H
0.827 0.240 22 41526319 missense variant C/T snv 4.0E-06 9
rs375761361
POLR3H ; ACO2
0.827 0.240 22 41527949 missense variant C/G;T snv 4.0E-06; 3.6E-05 9
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1555154946
ARID2 ; LOC105369745
0.827 0.120 12 45850644 stop gained C/T snv 16
rs1555395001
FBN1
0.807 0.200 15 48434600 missense variant A/G snv 8
rs1566911709
FBN1
0.742 0.240 15 48495502 frameshift variant T/- delins 15
rs1566913974
FBN1
0.807 0.200 15 48505029 missense variant A/C snv 8
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
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
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs387907260
KCTD7
0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 22
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 22
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs1567368243
SIN3A
0.882 0.040 15 75411651 frameshift variant -/T delins 9
rs1554196416
IRAK1BP1 ; PHIP
0.851 0.200 6 78958551 stop gained G/A snv 15
rs758361736
KIF7
0.776 0.240 15 89649836 missense variant T/G snv 1.3E-05 1.4E-05 16
rs1553284997
DIPK1A ; RPL5
0.790 0.400 1 92833544 splice acceptor variant G/C snv 17