Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886041065
ASXL2
0.677 0.600 2 25743913 frameshift variant G/- delins 43
rs1554121443
SYNGAP1 ; MIR5004
0.742 0.280 6 33438873 stop gained C/T snv 29
rs587784177
NSD1
0.790 0.280 5 177283827 missense variant G/A snv 20
rs727503054
FBN1
0.732 0.200 15 48420752 missense variant A/G;T snv 1.6E-05 15
rs775769424
BBS1 ; ZDHHC24
0.776 0.280 11 66530934 frameshift variant TG/- del 1.4E-05 11
rs1554904159
BRSK2 ; LOC107984298
0.851 0.160 11 1442607 splice donor variant G/A snv 11
rs1057516044
ABCC9
0.851 0.240 12 21913005 missense variant A/G snv 9
rs1057516048
NSD1
0.925 0.200 5 177283796 missense variant A/T snv 8
rs1057515572
PMS2
0.882 0.200 7 5987033 frameshift variant GC/ACT delins 8
rs1057518883
FBN1
0.851 0.240 15 48415571 missense variant A/C snv 7
rs1057518881
FBN1
0.827 0.200 15 48513656 missense variant C/A;G;T snv 6
rs1064794254
UPF3B
0.851 0.120 X 119841185 frameshift variant CT/- delins 6
rs1057518909
FBN1
0.925 0.120 15 48534099 frameshift variant CATT/- delins 5
rs1568303086
TCF4
0.882 0.320 18 55228877 missense variant C/A snv 5