Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs369160589
ALG1
0.742 0.400 16 5082676 splice region variant A/G snv 1.0E-04 1.3E-04 35
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1553920379
PPP3CA
0.776 0.160 4 101032294 frameshift variant -/AGTA delins 27
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1562127631
IRAK1BP1 ; PHIP
0.742 0.360 6 78961751 frameshift variant C/- del 24
rs1562114190
IRAK1BP1 ; PHIP
0.790 0.160 6 78946061 frameshift variant A/- delins 21
rs1555640521
LAMA1
0.790 0.320 18 6942110 frameshift variant A/- delins 15
rs1562150844
PHIP
0.790 0.280 6 78982908 frameshift variant CTTT/- delins 14
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins 14
rs1562203136
PHIP
0.882 0.120 6 79042902 frameshift variant -/T ins 9
rs1569324457
ASXL1
0.851 0.280 20 32433481 frameshift variant AG/- del 7
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 23
rs863225422
RNU4ATAC ; CLASP1 ; LOC107985942
0.742 0.440 2 121530927 non coding transcript exon variant G/A snv 4.6E-05; 7.7E-06 4.9E-05 23
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs114925667
NPHP3-ACAD11 ; UBA5
0.672 0.520 3 132675903 missense variant G/A;T snv 1.9E-03; 4.1E-06 64
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs1178187217
DNAH11
0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 38
rs1553770577
NPHP3-ACAD11 ; UBA5
0.724 0.480 3 132675342 missense variant T/C snv 37