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
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 49
rs200661329
PIGQ
0.708 0.440 16 576255 splice donor variant G/A;C snv 5.7E-05 48
rs1555727493
KMT2B
0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 46
rs1554317002
LOC112267983 ; CDK13
0.724 0.440 7 39950821 frameshift variant C/- delins 45
rs780533096
MIPEP
0.701 0.600 13 23886338 missense variant C/G;T snv 4.8E-06; 9.6E-06 44
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs587782995
PURA
0.708 0.360 5 140114480 missense variant T/C snv 42
rs867410737
ATP5F1D
0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 42
rs1345176461
LOC107984638 ; IRF2BPL
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 40
rs587784347
PLA2G6
0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 38
rs1559931177
QRICH1
0.827 0.120 3 49047207 stop gained G/A snv 34
rs875989800
SMARCB1
0.732 0.480 22 23833670 inframe deletion AGA/- delins 33
rs752746786
GNB1
0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 30
rs1554389088
CAMK2B
0.807 0.160 7 44243526 missense variant G/A snv 27
rs1555257073
POMP
0.827 0.120 13 28672407 frameshift variant AT/- delins 25
rs559979281
CLASP1 ; RNU4ATAC ; LOC107985942
0.742 0.440 2 121530892 non coding transcript exon variant C/G;T snv 7.7E-06; 2.3E-05; 3.5E-04 23
rs886043994
ASXL1
0.776 0.400 20 32433355 frameshift variant GT/- delins 21
rs1057518879
PLOD1
0.776 0.280 1 11965571 stop gained G/A snv 19
rs1558939623
CHN1
0.732 0.480 2 174824479 missense variant C/T snv 19
rs387906846
ARID1A
0.807 0.280 1 26773716 stop gained C/G;T snv 19
rs1564421528
WAC
0.882 0.080 10 28614666 stop gained C/T snv 16
rs724159949
LOC105372797 ; DYRK1A
0.827 0.240 21 37486563 stop gained C/T snv 15
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14