Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 50
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 45
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs121918467
PTPN11
0.807 0.280 12 112486482 missense variant C/A;T snv 8.0E-06; 1.2E-05 23
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs1085307845
PHIP
0.752 0.320 6 79025582 missense variant G/T snv 21
rs1554210073
PHIP
0.752 0.320 6 79042844 frameshift variant GT/A delins 21
rs587783446
CHD7
0.763 0.280 8 60850546 stop gained C/T snv 19
rs1057524157
DEAF1
0.776 0.200 11 686962 missense variant A/C;T snv 19
rs1131691771
PHIP ; IRAK1BP1
0.807 0.160 6 78958469 splice donor variant ACTT/- delins 18
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv 18
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv 15
rs142110773
FIGNL1 ; DDC
0.882 0.160 7 50463317 missense variant G/A snv 1.6E-05 7.0E-06 13
rs1334099693
SOX4
0.882 0.080 6 21594732 missense variant C/A;T snv 4.6E-06 11
rs1562171209
PHIP
0.851 0.160 6 79003821 missense variant T/C snv 9
rs1562203136
PHIP
0.882 0.120 6 79042902 frameshift variant -/T ins 9
rs1057518864
TCF4
0.925 18 55350409 splice acceptor variant C/T snv 7
rs1554617582
TRPS1
0.925 0.080 8 115418427 frameshift variant -/A delins 6