Disease: Juvenile polyposis syndrome
Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs377767347
SMAD4
0.742 0.520 18 51065549 missense variant G/A;C;T snv 14
rs80338963
SMAD4
0.776 0.280 18 51065548 missense variant C/A;G;T snv 11
rs80338965
SMAD4
0.851 0.480 18 51067121 frameshift variant CAGA/- delins 5
rs377767360
SMAD4
0.882 0.240 18 51076662 stop gained C/T snv 4.0E-06 4
rs397518413
SMAD4
0.882 0.400 18 51078294 missense variant C/T snv 8.0E-06 4
rs759363072
BMPR1A
0.882 0.160 10 86917188 stop gained C/G;T snv 4.0E-06 4
rs199476086
BMPR1A
0.925 0.120 10 86919316 missense variant C/A;T snv 3
rs281875324
SMAD4
1.000 0.120 18 51065456 missense variant A/C;G snv 3
rs377767334
SMAD4
0.925 0.200 18 51058143 frameshift variant -/G delins 3
rs1060500733
SMAD4
1.000 0.120 18 51065563 stop gained C/T snv 2
rs1060500734
SMAD4
1.000 0.120 18 51067077 frameshift variant A/- del 2
rs1131691168
BMPR1A
1.000 0.120 10 86899848 missense variant T/C snv 2
rs1131691179
BMPR1A
1.000 0.120 10 86900037 frameshift variant TGATGGCAGCATTCGATG/GA delins 2
rs1131691181
BMPR1A
1.000 0.120 10 86921574 stop gained C/G snv 2
rs1554891570
BMPR1A
1.000 0.120 10 86923393 stop gained C/T snv 2
rs1555686608
SMAD4
1.000 0.120 18 51067106 frameshift variant CA/- delins 2
rs199476087
BMPR1A
1.000 0.120 10 86899830 missense variant T/C snv 2
rs377767328
SMAD4
1.000 0.120 18 51049296 frameshift variant TC/- delins 2
rs377767331
SMAD4
1.000 0.120 18 51054859 stop gained C/G snv 2
rs587781618
SMAD4
1.000 0.120 18 51067188 splice donor variant G/A;T snv 2
rs587781928
BMPR1A
1.000 0.120 10 86917283 frameshift variant GA/- delins 2
rs587782400
BMPR1A
1.000 0.120 10 86917275 stop gained C/T snv 2
rs587782682
BMPR1A
1.000 0.120 10 86917140 stop gained C/A;T snv 3.2E-05 2
rs764466442
BMPR1A
1.000 0.120 10 86919384 stop gained C/G;T snv 8.0E-06 2
rs786201038
BMPR1A
1.000 0.120 10 86890165 frameshift variant T/- delins 2