Source: CLINVAR ×
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
rs1352010373
TMEM94
0.641 0.560 17 75489265 splice acceptor variant G/C snv 73
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv 67
rs1569355102
DYRK1A
0.695 0.360 21 37472869 frameshift variant TAAC/- delins 51
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 46
rs1560755661
TBCK
0.701 0.480 4 106171094 splice donor variant CAGATCTGTCTTTGGAGGATCTGGACACTCAGCAGAGAAATAAGGTGCCGAACTTCTGCCTCCACTGCTGTCAGAAGATGGCTTTGGAGGTTGAGCATGCTGTCTGTAAGTAGCACTTTTAGGAGTCCAACAAAACAGGTTGATAGATTCTCTCACACAGCGTTCAATGTCAATTTC/- delins 44
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs397514698
GNAQ
0.667 0.400 9 77797577 missense variant C/T snv 41
rs1232880706
FBN1
0.689 0.440 15 48526247 stop gained C/A;T snv 36
rs121918455
PTPN11
0.695 0.440 12 112477720 missense variant A/C;G snv 31
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins 31
rs1555575860
COG4
0.732 0.240 16 70496367 missense variant C/G;T snv 31
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv 29
rs66527965
COL1A1
0.763 0.240 17 50193038 missense variant C/A;T snv 29
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 27
rs1554603293
CHD7
0.752 0.320 8 60849154 missense variant G/A snv 17
rs672601334
RIT1
0.752 0.400 1 155904798 missense variant G/C snv 17
rs1564421528
WAC
0.882 0.080 10 28614666 stop gained C/T snv 16
rs483352822
RIT1
0.776 0.360 1 155904470 stop lost C/A;G;T snv 16
rs199476133
ND3 ; COX3 ; ND4L ; ND4 ; ATP8 ; ATP6
0.742 0.320 MT 8993 missense variant T/C;G snv 14
rs1555740650
PRR12
0.807 0.240 19 49596253 stop gained G/T snv 13
rs180177039
BRAF
0.851 0.160 7 140778006 missense variant T/A;C;G snv 12
rs1567010427
DYNC1H1
0.882 14 102010824 missense variant G/A snv 11
rs797045283
ARID1B
0.827 0.320 6 157207109 stop gained C/T snv 11
rs869025195
RIT1
0.790 0.280 1 155904493 missense variant T/G snv 11