Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs1554333853
CDK13
0.689 0.320 7 40046006 missense variant A/G snv 54
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs142239530
STIM1
0.790 0.320 11 4091328 missense variant C/G;T snv 4.4E-05 24
rs1554196416
IRAK1BP1 ; PHIP
0.851 0.200 6 78958551 stop gained G/A snv 15
rs1057516030
LOC105372797 ; DYRK1A
0.807 0.280 21 37480785 stop gained -/A delins 14
rs369634007
TMEM87B
0.882 0.080 2 112098688 missense variant A/G snv 1.6E-05 2.1E-05 10