Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs765379963
TMCO1
0.701 0.520 1 165743172 stop gained G/A snv 1.2E-05 2.1E-05 19
rs1557569831
SZT2
0.925 0.120 1 43431458 splice acceptor variant A/G snv 8
rs746200792
SZT2
0.925 0.120 1 43437254 inframe deletion TGT/- delins 8
rs397517154
SOS1
0.763 0.280 2 39022773 missense variant C/A;G;T snv 4.0E-06 16
rs1553329427
SRD5A2
0.851 0.200 2 31580683 frameshift variant A/- del 4
rs1284683098
HOXD13
1.000 0.120 2 176093070 synonymous variant G/A snv 1
rs1057519925
PIK3CA
0.683 0.560 3 179210291 missense variant G/A;C snv 25
rs2472680
NR1I2
0.882 0.160 3 119808929 intron variant T/C snv 0.90 3
rs12508721
IL21-AS1
0.742 0.360 4 122623509 intron variant C/T snv 0.24 11
rs907715
IL21
0.752 0.520 4 122613898 intron variant C/T snv 0.35 11
rs2055979
IL21-AS1 ; IL21
0.827 0.320 4 122619586 intron variant C/A snv 0.23 6
rs61729366
FRAS1
0.851 0.240 4 78511299 missense variant G/A snv 5.2E-03 5.8E-03 6
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv 19
rs1554199368
NSD1
0.827 0.160 5 177256956 missense variant C/T snv 12
rs1057518944
NIPBL
0.807 0.280 5 36984990 frameshift variant CT/- delins 9
rs1562134961
IRAK1BP1 ; PHIP
0.776 0.320 6 78969879 frameshift variant A/- delins 13
rs2274911
GPRC6A
0.851 0.160 6 116809541 missense variant G/A snv 0.72 0.74 6
rs6932902
ESR1
0.882 0.160 6 152055389 intron variant G/A snv 0.22 3
rs869312712
ARID1B
0.925 0.360 6 157084866 stop gained C/T snv 3
rs121913355
BRAF
0.641 0.520 7 140781602 missense variant C/A;G;T snv 4.0E-06 42
rs3757824
LOC101927609 ; AHR
0.882 0.160 7 17296411 non coding transcript exon variant T/C;G snv 3
rs776428407
HOXA10 ; HOXA10-HOXA9 ; HOXA9
1.000 0.120 7 27174194 missense variant C/A;T snv 4.3E-06; 4.3E-06 1
rs759317757
OTUD6B
0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 12
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs1110061
NR5A1
0.807 0.200 9 124500523 missense variant C/A;G snv 4.3E-06; 0.10 7