Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1247427997
TMCO1
1.000 1 165743244 stop gained G/A;T snv 4.0E-06; 4.0E-06 4
rs1314314373
BCL11B
1.000 14 99176115 stop gained G/A;C snv 4.1E-06 4
rs1553249737
TMCO1
1.000 1 165743263 stop gained G/T snv 4
rs1553631770
CTNNB1
1.000 3 41233398 missense variant A/T snv 4
rs1555950665
DDX3X ; LOC105373184 ; LOC107985678
1.000 X 41334255 start lost G/C snv 4
rs587777618
CCND2
0.925 12 4299977 missense variant A/G snv 4
rs786205208
NEXMIF
0.925 X 74742675 stop gained G/A snv 4
rs1553156053
SLC2A1
1.000 1 42929652 stop gained G/A snv 3
rs1554062562
TRIO
1.000 5 14359442 stop gained C/T snv 3
rs1554708787
PTCH1
1.000 9 95506567 stop gained C/T snv 3
rs1554944527
DEAF1
1.000 11 687999 stop gained G/T snv 3
rs1555565243
RAI1
1.000 17 17794617 frameshift variant CT/- delins 3
rs1555891562
GNAS
1.000 20 58909707 missense variant G/A snv 3
rs1556235119
UBE2A
1.000 X 119574712 start lost A/G snv 3
rs368820286
ALDH7A1
1.000 5 126549924 splice region variant C/T snv 2.0E-05 1.4E-05 3
rs761532715
PKDCC
1.000 2 42053250 stop gained C/A snv 3
rs762904815
BRPF1
1.000 3 9744394 frameshift variant C/-;CC;CCC delins 3
rs781768965
PTCH1
1.000 9 95508175 stop gained C/A;G snv 4.0E-06 3
rs781978013
KMT2A
1.000 11 118472681 stop gained G/A;T snv 4.0E-06 3
rs111033284
MYO7A
11 77156991 missense variant G/A snv 1.6E-05 7.0E-06 2
rs1553268563
USH2A
1 215845823 coding sequence variant C/- delins 2
rs1553283037
HNRNPU
1.000 1 244860382 missense variant T/C snv 2
rs1553549717
SCN1A ; SCN1A-AS1
1.000 2 166051871 frameshift variant C/- delins 2
rs1553794464
ZBTB20-AS1 ; ZBTB20
1.000 3 114350821 frameshift variant -/C delins 2
rs1554499814
EZH2
1.000 7 148829806 missense variant C/G snv 2