Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs112795301
FOXP1
0.776 0.160 3 70972634 stop gained G/A snv 11
rs886041116
ADNP
0.776 0.240 20 50892526 stop gained G/A snv 11
rs1064793345
PTEN
0.752 0.240 10 87961039 missense variant T/C snv 10
rs1567941252
PCGF2
0.807 0.240 17 38739601 missense variant G/A snv 10
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv 10
rs1562171209
PHIP
0.851 0.160 6 79003821 missense variant T/C snv 9
rs121909323
CACNA1A
0.790 0.160 19 13277122 stop gained G/A snv 8
rs558269137
FLG ; FLG-AS1
0.851 0.160 1 152312601 frameshift variant ACTG/- delins 1.3E-02 8
rs1555453538
POLG ; MIR6766
0.807 0.280 15 89326678 frameshift variant A/- delins 7
rs1064794254
UPF3B
0.851 0.120 X 119841185 frameshift variant CT/- delins 6
rs1135402760
BRSK2
0.851 0.160 11 1451405 frameshift variant AG/- delins 6
rs1566446604
CHD8
0.882 0.080 14 21431511 frameshift variant GAGAGCTTGGCAGTCCA/- delins 6
rs1568507354
RYR1
0.827 0.200 19 38502879 splice acceptor variant G/A snv 6
rs794726827
SCN1A ; SCN1A-AS1
0.827 0.120 2 166054637 splice donor variant C/A;G;T snv 6
rs796052571
GRIN2B ; LOC105369668
0.851 0.040 12 13608755 missense variant C/T snv 6
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv 5
rs1555740394
PRR12
0.882 0.120 19 49595234 frameshift variant -/ACCACCC delins 5
rs1568070621
BPTF
1.000 0.040 17 67918746 frameshift variant AG/- delins 4
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv 4
rs786205133
RLIM
0.882 0.120 X 74592248 missense variant T/C snv 4
rs796053356
STXBP1
0.882 0.160 9 127663344 missense variant G/A snv 4
rs1057519440
GSPT2
1.000 0.040 X 51744647 missense variant G/A snv 3
rs1555144459
PKP2
0.925 0.120 12 32841038 frameshift variant -/A delins 3
rs1569149539
TCF20
0.925 0.160 22 42212712 stop gained G/C snv 3
rs587777162
EEF1A2
0.925 0.040 20 63495972 missense variant C/T snv 3