Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs1557036768
HUWE1
0.708 0.320 X 53647390 missense variant C/T snv 44
rs1553655558
TRIP12
0.752 0.360 2 229830831 frameshift variant A/- delins 43
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs1569548274
MECP2
0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 43
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs11540652
TP53
0.592 0.640 17 7674220 missense variant C/A;G;T snv 1.2E-05 42
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 42
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv 41
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv 40
rs1345176461
LOC107984638 ; IRF2BPL
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 40
rs28934576
TP53
0.554 0.600 17 7673802 missense variant C/A;G;T snv 4.0E-06; 1.6E-05 39
rs1178187217
DNAH11
0.683 0.480 7 21600085 missense variant G/A;T snv 4.3E-06 38
rs587784347
PLA2G6
0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 38
rs267606826
FOXG1
0.708 0.520 14 28767903 stop gained C/A;G;T snv 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
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs121913281
PIK3CA
0.623 0.520 3 179234296 missense variant C/T snv 37
rs121912651
TP53
0.605 0.680 17 7674221 missense variant G/A;C snv 4.0E-06 37
rs1553770577
NPHP3-ACAD11 ; UBA5
0.724 0.480 3 132675342 missense variant T/C snv 37
rs878853250
SCN8A
0.752 0.360 12 51699663 stop gained T/A;C snv 37
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv 36