Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs587778779
CYP27A1
0.807 0.240 2 218814379 splice acceptor variant G/A;T snv 14
rs1085308041
PTEN
0.763 0.160 10 87965285 splice acceptor variant A/C;G snv 12
rs147484110
CSTB
0.807 0.200 21 43774760 splice acceptor variant C/G snv 1.5E-04 2.7E-04 11
rs1426488816
PLAA
0.827 0.160 9 26913948 splice acceptor variant C/T snv 8.0E-06 9
rs1557569831
SZT2
0.925 0.120 1 43431458 splice acceptor variant A/G snv 8
rs1057518681
PUF60 ; SCRIB
0.827 0.200 8 143816821 splice acceptor variant T/C snv 7
rs1057518864
TCF4
0.925 18 55350409 splice acceptor variant C/T snv 7
rs1114167293
C12orf57
0.807 0.320 12 6944474 splice acceptor variant A/G snv 4.0E-06 7
rs1554123982
CAMK2A
0.925 0.040 5 150273157 splice acceptor variant C/- delins 7
rs1554385305
CAMK2B
0.925 0.040 7 44241784 splice acceptor variant C/T snv 7
rs1554643168
PUF60
0.851 0.160 8 143818077 splice acceptor variant T/C;G snv 7
rs1555155556
BORCS5
0.851 0.120 12 12435627 splice acceptor variant G/T snv 6
rs1568507354
RYR1
0.827 0.200 19 38502879 splice acceptor variant G/A snv 6
rs1554863016
KIF11
0.882 0.240 10 92648211 splice acceptor variant G/A snv 5
rs1557134621
MECP2
0.827 0.120 X 154030106 splice acceptor variant CCTAGTTTAGAAAAGTGCAAAGCTACTTCTGGCCCTGGTTAGGTCTTCAACCTGACTGTGCTTGTCGGTAAGAAAAACATCCCCAATGCTCCAACTACTCCCACCCTGAAGCCACGAAACTCTAAGTTTACTGAAAGAAAAAAAAATATTTTTTATTTCAGTTAATCGGGAAGCTTTGTCAGAGCCCTACCCATAAGGAGAAGAGACAACAGCTGCCTTTATTCTTGTTGGTTTGCTTTGCAATCCGCTCCGTGTAAAGTCAGCTAACTCTCTCGGTCACGGGCGTCCGGCTGTCCACAGGCTCCTCTCTGTTTGGCCTTGGCATGGAGGATGAAACAATGTCTTTGCGCTCTCCCTCCCCTCGGTGTTTGTACTTTTCTGCGGCCGTGGCGGCGGTGGCAACCGCGGGCTGAGTCTTAGCTGGCTCCTTGGGGCAGCCGTCGCTCTCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAG/- delins 5
rs730882215
WWOX
0.882 0.040 16 78424869 splice acceptor variant G/A snv 4.0E-06 4
rs1060499687
GNPTAB
0.882 0.160 12 101757657 splice acceptor variant GC/AT mnv 3
rs1560212751
DOCK3
1.000 3 51208772 splice acceptor variant A/G snv 2
rs730882221
TCTN1
0.925 12 110626360 splice acceptor variant A/G snv 2
rs770374710
MAGEL2
0.611 0.560 15 23645747 frameshift variant G/-;GG delins 87
rs1163944538
TMEM94
0.641 0.560 17 75494905 frameshift variant -/A delins 4.0E-06 73
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 35