Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs796052243
SPATA5
0.695 0.520 4 122934574 inframe deletion CAA/- delins 54
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
rs61750420
PEX1
0.689 0.480 7 92501562 missense variant C/T snv 3.2E-04 3.5E-04 46
rs866294686
TRIM8 ; LOC105378460
0.683 0.480 10 102657073 stop gained C/A;T snv 43
rs1364709483
TBX2-AS1 ; TBX2
0.701 0.360 17 61400235 missense variant G/A snv 6.5E-05 36
rs1555462347
USP7
0.716 0.520 16 8901028 frameshift variant CT/- delins 34
rs1569518070
COL6A1
0.752 0.480 21 45989088 inframe deletion AAC/- del 33
rs137854889
ZMPSTE24
0.742 0.440 1 40290871 frameshift variant T/-;TT delins 31
rs137854539
GNAS
0.716 0.520 20 58903703 missense variant C/T snv 27
rs1057518345
ADNP
0.742 0.400 20 50894172 frameshift variant ACTA/- delins 25
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs12720458
KCNQ1
0.716 0.240 11 2585264 missense variant A/G snv 4.0E-05 1.4E-05 20
rs1064795760
BICD2
0.882 0.080 9 92719007 inframe deletion ATT/- del 14
rs587783772
MTM1
0.776 0.200 X 150659665 missense variant G/A;T snv 14
rs80338701
PMM2
0.776 0.360 16 8811088 stop gained C/A;T snv 4.4E-05; 5.4E-06 13
rs190521996
PMM2
0.790 0.320 16 8811660 missense variant T/C snv 2.9E-04 4.1E-04 12