Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1553251507
MINDY1 ; PRUNE1
1 151008634 frameshift variant -/GGAGG delins 1
rs1553253812
PRUNE1
1 151025654 frameshift variant G/- delins 1
rs1553255501
ACTA1
1 229432792 missense variant A/C snv 1
rs1553292105
TGFB2 ; TGFB2-AS1
1 218346929 frameshift variant TTGCTCCAGGAGAAGGC/- delins 1
rs1553344875
KCNH1
1 210797718 missense variant C/T snv 1
rs201618750
COQ8A
1 226986614 stop gained C/A;T snv 8.0E-06; 2.0E-05 1
rs760520604
TBX19
1 168281162 frameshift variant TGAG/- delins 8.0E-06 1
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs543860009
TTN-AS1 ; TTN
0.742 0.320 2 178589003 stop gained G/A;T snv 33
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins 33
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
rs147001633
DNMT3A
0.776 0.240 2 25234373 missense variant C/A;G;T snv 4.0E-06; 4.0E-06; 2.2E-04 15
rs672601370
KIF1A
0.790 0.160 2 240775863 missense variant G/A snv 13
rs121908119
WNT10A ; LOC107984111
0.763 0.200 2 218882368 stop gained C/A snv 6.2E-04 8.5E-04 10
rs1553603732
DES
1.000 0.160 2 219423784 frameshift variant CCCATCCAGACCTACTC/- delins 10
rs1553553086
FARSB
0.827 0.280 2 222623699 missense variant C/T snv 9
rs767350733
ALS2
0.882 0.120 2 201724392 stop gained G/A snv 2.0E-05 7
rs1057521223
SCN2A
1.000 0.040 2 165373339 stop gained G/A;T snv 5
rs1197561990
NEB
0.925 0.080 2 151664609 splice acceptor variant C/G;T snv 7.0E-06 3
rs1553352926
BCL11A
0.925 2 60545969 splice donor variant A/G snv 3
rs1553471273
GLI2
0.925 0.160 2 120951309 frameshift variant G/- delins 3
rs1553479405
GLI2
1.000 2 120989603 frameshift variant C/- del 3
rs1553521389
CUL3
1.000 2 224503679 frameshift variant AG/- delins 3
rs587784570
ZEB2
0.925 0.280 2 144401292 stop gained G/A;C snv 4.0E-06 3