Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs1555565492
RAI1
0.776 0.160 17 17795417 frameshift variant -/G delins 18
rs797044849
GRIN2B
0.807 0.160 12 13567164 missense variant C/A;G;T snv 4.0E-06 17
rs112795301
FOXP1
0.776 0.160 3 70972634 stop gained G/A snv 11
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
rs1135402760
BRSK2
0.851 0.160 11 1451405 frameshift variant AG/- delins 6
rs12877501
COL4A2
0.925 0.160 13 110512039 missense variant G/A;C snv 5.0E-04 4
rs397514627
CAMK2G
0.882 0.160 10 73842486 missense variant C/A;G snv 4
rs796053356
STXBP1
0.882 0.160 9 127663344 missense variant G/A snv 4
rs1569149539
TCF20
0.925 0.160 22 42212712 stop gained G/C snv 3
rs768407867
CHRNA1
0.925 0.160 2 174748177 missense variant C/T snv 4.4E-05 3.5E-05 3
rs121917893
NLGN3
0.807 0.160 X 71167508 missense variant C/T snv 2
rs1569151204
TCF20
0.925 0.160 22 42213495 frameshift variant CA/- delins 2
rs200533370
SYN1
0.882 0.160 X 47574285 missense variant T/C snv 1.1E-03 1.4E-02 1
rs397514680
SYN1
0.925 0.160 X 47574336 missense variant C/G;T snv 1
rs267608327
MECP2
0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 25
rs876660634
PTEN
0.807 0.200 10 87925551 missense variant A/C;G snv 10
rs34002892
GNPTAB
0.851 0.200 12 101753470 frameshift variant GA/- delins 5.1E-04 3.5E-04 8
rs1568507354
RYR1
0.827 0.200 19 38502879 splice acceptor variant G/A snv 6
rs62643608
CDKL5
0.882 0.200 X 18575390 frameshift variant T/- delins 3
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs1331463984
TRAF7
0.701 0.240 16 2176350 missense variant G/A snv 33