Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs398122828
COL11A1
1.000 0.240 1 102915630 splice donor variant C/T snv 2
rs746593718
TBCE ; B3GALNT2
1.000 1 235448437 stop gained -/AGTAA delins 2.0E-05 6.3E-05 2
rs768849266
NMNAT2
1.000 1 183261260 missense variant C/T snv 1.2E-05 2
rs775499191
NMNAT2
1.000 1 183286706 frameshift variant -/G delins 4.0E-06; 4.0E-06 2
rs864309703
GJA8
1.000 0.200 1 147908106 missense variant G/A;C;T snv 2
rs1340611668
HHAT
1 210348976 start lost A/G;T snv 7.0E-06 1
rs1553173425
DVL1
1 1338112 frameshift variant G/- delins 1
rs1553275644
RAB3GAP2
1 220182355 splice acceptor variant C/T snv 1
rs1553284965
RPL5 ; DIPK1A
1 92833459 splice donor variant G/A snv 1
rs797044857
GRHL3
1 24354474 missense variant C/G snv 1
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
rs137852813
SOS1
0.807 0.200 2 39051202 missense variant A/C;G snv 11
rs137852769
GAREM2 ; HADHA
0.827 0.280 2 26195184 missense variant C/G snv 1.2E-03 1.0E-03 7
rs1057521083
SATB2
0.925 0.200 2 199348709 missense variant G/A snv 4
rs201553266
NEB
0.882 0.080 2 151551738 splice region variant C/T snv 2.8E-05 7.0E-06 4
rs1341894581
ECEL1
0.925 2 232486499 frameshift variant ACCGGGCCCCGGTGGCGCTGCGCGCAGCGCCCAACGGGAAGCCCGG/- delins 3.3E-04 1.1E-04 3
rs1553479405
GLI2
1.000 2 120989603 frameshift variant C/- del 3
rs1553521389
CUL3
1.000 2 224503679 frameshift variant AG/- delins 3
rs1553565140
TWIST2 ; LOC100287387
0.925 0.240 2 238848438 missense variant G/A;C snv 3
rs1553650442
TTN ; TTN-AS1
0.925 0.160 2 178593732 frameshift variant C/-;CCC delins 3
rs387906589
ACVR1
0.925 0.120 2 157766004 missense variant C/A;T snv 3
rs397517172
SOS1
0.925 0.160 2 39056704 missense variant T/C snv 3
rs397517174
SOS1
0.925 0.160 2 39054822 missense variant A/C;G snv 3
rs755531536
NEB
0.925 0.080 2 151694370 frameshift variant C/- del 7.0E-06 3