Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
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
rs1559810905
IFIH1
0.827 0.240 2 162273810 missense variant T/A snv 9
rs1555793103
SNHG22 ; MYO5B
0.882 0.240 18 49836710 splice donor variant C/G snv 4
rs1553193507
NOTCH2
1.000 0.080 1 119915869 stop gained G/A 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
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
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins 31
rs727502810
RIC3 ; TUB
0.827 0.160 11 8100575 frameshift variant AGAG/-;AG delins 8
rs1555793199
MYO5B ; SNHG22
0.882 0.240 18 49837750 frameshift variant G/- delins 4