Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A snv 11
rs797046134
ALDH1A3 ; LOC101927751
1.000 0.040 15 100914748 missense variant T/C snv 1
rs1567574466
ANKRD11
1.000 0.040 16 89283404 stop gained A/T snv 1
rs1563183492
AUTS2
0.708 0.520 7 70766248 missense variant C/T snv 32
rs1568070621
BPTF
1.000 0.040 17 67918746 frameshift variant AG/- delins 4
rs81002885
BRCA2
0.827 0.280 13 32316529 splice donor variant T/A;C;G snv 4.0E-06 6
rs1135402760
BRSK2
0.851 0.160 11 1451405 frameshift variant AG/- delins 6
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv 8
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv 4
rs62643608
CDKL5
0.882 0.200 X 18575390 frameshift variant T/- delins 3
rs1566446604
CHD8
0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 6
rs768407867
CHRNA1
0.925 0.160 2 174748177 missense variant C/T snv 4.4E-05 3.5E-05 3
rs2710102
CNTNAP2
0.790 0.120 7 147877298 intron variant A/G;T snv 1
rs7794745
CNTNAP2
0.851 0.040 7 146792514 intron variant A/T snv 0.49 1
rs12877501
COL4A2
0.925 0.160 13 110512039 missense variant G/A;C snv 5.0E-04 4
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs1060499733
DHX30
0.851 0.120 3 47846757 missense variant A/G snv 11
rs587777162
EEF1A2
0.925 0.040 20 63495972 missense variant C/T snv 3
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins 18
rs558269137
FLG ; FLG-AS1
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02 8
rs757511770
FMN2
0.807 0.280 1 240092656 missense variant A/C;G;T snv 8.0E-06; 4.0E-06 9
rs797046135
FOXN1
1.000 0.040 17 28524525 missense variant C/T snv 4.0E-06 1
rs112795301
FOXP1
0.776 0.160 3 70972634 stop gained G/A snv 11