Source: CLINVAR ×
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs886040971
TRPS1
0.683 0.280 8 115604339 stop gained G/A;T snv 56
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
rs1563686762
RAD21 ; UTP23
0.790 0.280 8 116847620 inframe deletion GTT/- delins 16
rs776720232
PGAP3
0.827 0.240 17 39673099 missense variant T/C;G snv 4.2E-06 10
rs1057518944
NIPBL
0.807 0.280 5 36984990 frameshift variant CT/- delins 9
rs143044921
FREM2
0.827 0.280 13 38691375 missense variant G/A;T snv 3.5E-03 8
rs141498002
PMM2
0.827 0.280 16 8811099 stop gained G/A;T snv 1.1E-04; 5.2E-06 8
rs1565977796
CDK8
0.882 0.120 13 26337623 stop gained C/A snv 7
rs61729366
FRAS1
0.851 0.240 4 78511299 missense variant G/A snv 5.2E-03 5.8E-03 6
rs587777710
GATA6
0.807 0.160 18 22171856 stop gained G/T snv 6
rs1565286228
MYRF
0.807 0.200 11 61766173 frameshift variant GCACCGGGCCCCCCATC/T delins 6
rs775394591
FREM2
0.851 0.120 13 38784727 inframe deletion TCT/- delins 2.8E-05 5
rs397518483
RARB
0.851 0.120 3 25596428 missense variant C/A;T snv 4
rs372359356
FRAS1
0.925 0.120 4 78337784 missense variant G/A snv 2.8E-05 3.5E-05 3
rs1555628863
GATA6
0.925 0.080 18 22172215 frameshift variant G/- delins 3
rs387906818
GATA6
0.882 0.120 18 22181516 missense variant C/T snv 3
rs780263938
GLI3
0.925 0.120 7 41966347 missense variant G/C snv 8.4E-06 3
rs864309713
FBN1
1.000 0.080 15 48463993 frameshift variant -/T ins 1
rs921444831
FRAS1
1.000 0.080 4 78450199 missense variant A/C;T snv 1
rs1555261576
FREM2
1.000 0.080 13 38692338 missense variant C/T snv 1
rs756636036
ROBO4 ; LOC107984406
1.000 0.080 11 124896308 missense variant C/A;G;T snv 4.0E-06; 2.8E-05 1
rs121908604
ZFPM2 ; ZFPM2-AS1
0.925 0.080 8 105802609 missense variant A/G snv 1