Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs369160589
ALG1
0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 35
rs886039469
KCNMA1-AS1 ; KCNMA1
0.701 0.560 10 76891709 missense variant T/C snv 35
rs1009298200
ALG1
0.742 0.400 16 5079077 missense variant C/G;T snv 7.0E-06 34
rs1555452127
ALG1
0.742 0.400 16 5079078 missense variant T/C snv 34
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs1555575860
COG4
0.732 0.240 16 70496367 missense variant C/G;T snv 31
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 28
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs1559470315
CTNNB1
0.732 0.320 3 41227287 protein altering variant CCACAAGCAG/T delins 26
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 23
rs863225422
RNU4ATAC ; CLASP1 ; LOC107985942
0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 23
rs121908557
SCN4A ; LOC105371858
0.752 0.280 17 63957514 missense variant C/T snv 8.2E-06 1.4E-05 23
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs864309486
GMNN
0.763 0.320 6 24777262 stop gained A/T snv 21
rs138659167
DHCR7
0.807 0.320 11 71435840 splice acceptor variant C/A;G snv 5.6E-05; 3.9E-03 20
rs377274761
GALC
0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 20
rs864309487
GMNN
0.763 0.280 6 24777279 frameshift variant TCAA/- delins 20
rs1057518843
GALC
0.790 0.240 14 87988523 missense variant C/T snv 19
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv 17
rs1032242817
DHCR7
0.807 0.320 11 71441307 stop gained C/T snv 8.0E-06 7.0E-06 17
rs912001256
SCN4A
0.851 0.240 17 63947062 stop gained G/A snv 17