Source: INFERRED ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv 58
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
rs752298579
TANGO2
0.701 0.480 22 20061538 missense variant G/A snv 1.4E-04 7.0E-06 48
rs1345176461
LOC107984638 ; IRF2BPL
0.716 0.240 14 77027231 stop gained G/A;T snv 4.3E-06 40
rs1556425596
COL6A1
0.752 0.240 21 45989967 intron variant C/T snv 37
rs387907145
ROGDI
0.695 0.440 16 4800548 stop gained G/A snv 35
rs786205124
ROGDI
0.701 0.400 16 4798593 frameshift variant G/-;GGG delins 3.5E-05 35
rs113871094
FBN1
0.683 0.320 15 48465820 stop gained G/A snv 34
rs1060499548
ABL1
0.724 0.440 9 130872961 missense variant G/A snv 27
rs77078070
KLHL7
0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 26
rs1555731819
KMT2B
0.807 0.200 19 35729980 missense variant G/T snv 26
rs1555954284
DDX3X
0.752 0.360 X 41346607 missense variant C/T snv 24
rs137854466
FBN1
0.724 0.320 15 48411280 stop gained G/A;C snv 4.0E-05; 8.0E-06 23
rs387907260
KCTD7
0.776 0.280 7 66633410 missense variant C/T snv 4.0E-06 1.4E-05 22
rs796052686
KCTD7
0.776 0.280 7 66638394 missense variant G/A snv 1.2E-05 22
rs1247665387
FA2H
0.807 0.360 16 74774623 missense variant C/A snv 7.0E-06 14
rs771237928
NOTCH2
0.752 0.280 1 119915813 frameshift variant G/-;GG delins 14
rs1057520063
GLI3
0.763 0.200 7 41964641 frameshift variant -/A delins 13
rs137854461
FBN1
0.790 0.280 15 48437026 missense variant T/C snv 12
rs397515804
FBN1
0.776 0.200 15 48472628 missense variant C/A;T snv 11
rs772887102
RARS2
0.807 0.200 6 87548623 missense variant A/C snv 2.2E-04 2.8E-05 9
rs781417096
RARS2
0.807 0.200 6 87514995 frameshift variant T/- delins 1.6E-05 7.0E-06 9
rs1553525325
SCN1A-AS1 ; LOC102724058 ; SCN1A
0.807 0.120 2 166002716 missense variant A/T snv 9
rs398123425
ATRX
0.776 0.320 X 77688876 missense variant T/C snv 8
rs368313959
OTUD6B
0.851 0.080 8 91078383 stop gained C/T snv 1.6E-04 1.0E-04 8