Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1557106484
ATRX
X 77633315 missense variant C/A snv 7
rs724159951
DYRK1A
21 37493101 missense variant T/C snv 6
rs724159952
LOC105372797 ; DYRK1A
21 37490451 frameshift variant -/G delins 6
rs724159954
DYRK1A ; LOC105372797
21 37490353 frameshift variant -/A delins 6
rs724159956
DYRK1A
21 37496249 frameshift variant -/G delins 6
rs1060499740
CINP
14 102348559 stop lost A/C snv 3
rs1554777480
STXBP1
9 127666235 missense variant C/G snv 2
rs1060499757
ASPM
1 197101677 frameshift variant CT/- delins 1
rs1060499758
ASPM
1 197094079 splice region variant C/T snv 1
rs748016594
KIF23
15 69426090 missense variant T/A;C snv 4.4E-06 1
rs61752717
MEFV
0.583 0.840 16 3243407 missense variant T/A;C snv 2.8E-04 19
rs368869806
PTCH1
0.614 0.480 9 95485875 splice acceptor variant C/T snv 4.0E-06 7.0E-06 97
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs397507520
PTPN11
0.658 0.520 12 112453279 missense variant G/C;T snv 34
rs61816761
FLG ; FLG-AS1
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06 24
rs61753219
PEX6
0.672 0.400 6 42978330 missense variant G/A snv 3.6E-05 2.8E-05 64
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 62
rs779027563
CNTNAP1
0.677 0.360 17 42687838 missense variant G/C snv 4.0E-06 7.0E-06 58
rs1553621496
UNC80
0.677 0.440 2 209976305 splice donor variant T/G snv 53
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs1010184002
PEX6
0.689 0.400 6 42978878 stop gained C/T snv 7.0E-06 60
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 46
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 35