Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs1554700718
HNRNPK
0.658 0.360 9 83975540 non coding transcript exon variant T/C snv 59
rs1554888939
EHMT1
0.683 0.640 9 137798823 missense variant G/T snv 58
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
rs1565679039
COL2A1
0.701 0.400 12 47983399 stop gained T/A snv 45
rs1400419650
TRIP11
0.708 0.320 14 92005938 stop gained C/A;T snv 4.0E-06 1.4E-05 38
rs1555386022
TRIP11
0.708 0.320 14 92003418 splice donor variant C/A snv 38
rs1555038111
KMT2A
0.701 0.480 11 118478153 stop gained T/G snv 37
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs1555429629
RAD51
0.763 0.200 15 40729632 missense variant G/A snv 23
rs587784105
NSD1
0.732 0.440 5 177235863 stop gained G/A snv 19
rs1566823361
FGF14
0.742 0.440 13 101726732 frameshift variant -/G delins 18
rs1568269273
NFIX
0.807 0.320 19 13025433 missense variant G/A snv 18
rs1561875767
CUL7 ; KLC4
1.000 0.200 6 43041036 stop gained G/A snv 14
rs113422242
FBN1
0.763 0.240 15 48510065 stop gained G/A snv 7.0E-06 14
rs1559662068
BRPF1
0.925 3 9741340 frameshift variant AG/T delins 10
rs121918504
FGFR2
0.807 0.120 10 121517460 missense variant C/A;T snv 2.4E-05 9
rs397516827
RAF1
0.882 0.160 3 12604194 missense variant G/A;C;T snv 9
rs1057519338
AMMECR1
0.882 X 110264571 stop gained G/A snv 8
rs1555706928
SETBP1
0.851 0.240 18 44951954 missense variant G/A snv 8
rs1057519334
NPR2
0.925 0.040 9 35802550 frameshift variant C/- del 7
rs765498367
LOC105373312 ; AMMECR1
0.925 X 110317643 stop gained A/G;T snv 1.2E-04 2.8E-05 6
rs797045954
SF3B4
0.851 0.160 1 149923568 frameshift variant TCGAGGGGGAACTGGTGGCC/- delins 5