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
rs104894229
LRRC56 ; HRAS
0.564 0.600 11 534289 missense variant C/A;G;T snv 73
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv 63
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs1085307993
GABRB2
0.716 0.440 5 161331056 missense variant C/T snv 53
rs199469465
SRCAP
0.672 0.560 16 30737343 stop gained C/A;T snv 50
rs1057519389
EBF3
0.695 0.400 10 129957324 missense variant C/A;G;T snv 46
rs1557043622
SLC35A2
0.695 0.400 X 48909843 missense variant C/A snv 46
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 46
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs180177035
BRAF
0.752 0.280 7 140801502 missense variant T/C snv 35
rs1060505041
NACC1
0.716 0.400 19 13136099 missense variant C/A;T snv 34
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs387907144
ARID1B
0.716 0.600 6 157181056 stop gained C/A;T snv 34
rs543860009
TTN-AS1 ; TTN
0.742 0.320 2 178589003 stop gained G/A;T snv 33
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs878854378
TTN ; TTN-AS1
0.742 0.320 2 178533657 inframe deletion GTT/- delins 33
rs121909231
PTEN
0.667 0.600 10 87961095 stop gained C/A;T snv 32
rs1555968941
CACNA1C
0.752 0.280 12 2653847 missense variant G/A;C snv 31