Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1064794276
NF1
0.925 0.120 17 31235639 frameshift variant TTTG/- delins 2
rs1553699115
SETD2
1.000 3 47116749 splice acceptor variant TTCT/- delins 1
rs1555155263
ARID2 ; LOC105369745
1.000 12 45851563 frameshift variant TTAC/- delins 1
rs759317757
OTUD6B
0.807 0.280 8 91078416 frameshift variant TTAAC/- delins 12
rs80359388
BRCA2
0.882 0.200 13 32337899 frameshift variant TT/-;T delins 4
rs886039477
ANKRD11
0.925 0.280 16 89282771 frameshift variant TT/- delins 3
rs1553693712
BRPF1
1.000 3 9734167 frameshift variant TT/- delins 2
rs1555187440
KMT2D
1.000 12 49031293 frameshift variant TT/- del 2
rs1555912285
ASXL1
1.000 20 32435475 frameshift variant TGTTGAGC/CAA delins 3
rs1554247637
ARID1B
1.000 6 156778646 frameshift variant TGCGAGCGGCGGCC/G delins 2
rs1554863044
KIF11
1.000 10 92648359 frameshift variant TGAA/- delins 1
rs747661902
PIGQ
1.000 16 578404 frameshift variant TG/- del 2.8E-05 2.1E-05 3
rs1555648564
PPM1D
1.000 17 60656807 frameshift variant TG/- del 2
rs777537805
ASXL1
1.000 20 32433740 frameshift variant TG/- delins 2
rs1553544102
SATB2
1.000 2 199308769 frameshift variant TC/- delins 2
rs80359775
BRCA2
0.882 0.200 13 32398210 frameshift variant TATG/- delins 3
rs1557100594
AVPR2
0.925 0.080 X 153905887 inframe deletion TAC/- delins 3
rs1429181351
GNPTAB
0.925 0.160 12 101764957 frameshift variant TA/- del 4.0E-06 4
rs777218310
ECHS1
0.925 10 133369907 frameshift variant TA/- delins 1.6E-05 1.3E-04 4
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv 11
rs386834236
GAA
0.882 0.120 17 80104542 intron variant T/G snv 3.4E-03 3.8E-03 6
rs397517149
SOS1
0.851 0.200 2 39022786 missense variant T/G snv 4
rs1554629007
SMARCA2
1.000 9 2115958 missense variant T/G snv 2
rs926748713
TRMU
1.000 22 46352140 missense variant T/G snv 4.0E-06 2.1E-05 2
rs1555208063
TRPV4
1.000 12 109800629 missense variant T/G snv 1