Gene: SMAD4 ×
Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1060500742
rs1060500742
SMAD4
1 1.000 0.120 18 51058181 frameshift variant GGCCTCAG/- delins 0.700 0
dbSNP: rs121912577
rs121912577
SMAD4
2 0.925 0.160 18 51067115 stop gained C/G;T snv 8.0E-06 0.700 0
dbSNP: rs1316902116
rs1316902116
SMAD4
1 1.000 0.120 18 51054911 stop gained C/G;T snv 7.0E-06 0.700 0
dbSNP: rs1555685624
rs1555685624
SMAD4
1 1.000 0.120 18 51054787 stop gained C/G snv 0.700 0
dbSNP: rs1555686503
rs1555686503
SMAD4
1 1.000 0.120 18 51065596 frameshift variant AG/- delins 0.700 0
dbSNP: rs1555686506
rs1555686506
SMAD4
1 1.000 0.120 18 51065604 frameshift variant A/- delins 0.700 0
dbSNP: rs1555686600
rs1555686600
SMAD4
1 1.000 0.120 18 51067045 frameshift variant TG/- del 0.700 0
dbSNP: rs1555686608
rs1555686608
SMAD4
2 1.000 0.120 18 51067106 frameshift variant CA/- delins 0.700 0
dbSNP: rs1555686616
rs1555686616
SMAD4
1 1.000 0.120 18 51067149 frameshift variant -/A delins 0.700 0
dbSNP: rs1555686624
rs1555686624
SMAD4
3 0.882 0.480 18 51067189 splice donor variant T/C snv 0.700 0
dbSNP: rs1555687378
rs1555687378
SMAD4
1 1.000 0.120 18 51076653 stop gained C/T snv 0.700 0
dbSNP: rs1555687572
rs1555687572
SMAD4
1 1.000 0.120 18 51078331 missense variant G/A snv 0.700 0
dbSNP: rs1568206602
rs1568206602
SMAD4
1 1.000 0.120 18 51059897 frameshift variant -/C delins 0.700 0
dbSNP: rs377767324
rs377767324
SMAD4
1 1.000 0.120 18 51048809 frameshift variant -/AT ins 0.700 0
dbSNP: rs377767325
rs377767325
SMAD4
1 1.000 0.120 18 51048810 frameshift variant -/TGTCTGT delins 0.700 0
dbSNP: rs377767329
rs377767329
SMAD4
1 1.000 0.120 18 51049307 stop gained T/A;G snv 0.700 0
dbSNP: rs377767330
rs377767330
SMAD4
1 1.000 0.120 18 51054842 inframe deletion GTCCACTGAAGG/- del 0.700 0
dbSNP: rs377767331
rs377767331
SMAD4
2 1.000 0.120 18 51054859 stop gained C/G snv 0.700 0
dbSNP: rs377767332
rs377767332
SMAD4
1 1.000 0.120 18 51054864 stop gained C/T snv 0.700 0
dbSNP: rs377767333
rs377767333
SMAD4
1 1.000 0.120 18 51054931 frameshift variant C/- delins 0.700 0
dbSNP: rs377767334
rs377767334
SMAD4
3 0.925 0.200 18 51058143 frameshift variant -/G delins 0.700 0
dbSNP: rs377767335
rs377767335
SMAD4
1 1.000 0.120 18 51058186 frameshift variant -/GCCC delins 0.700 0
dbSNP: rs377767336
rs377767336
SMAD4
1 1.000 0.120 18 51058379 frameshift variant AC/- delins 0.700 0
dbSNP: rs377767338
rs377767338
SMAD4
1 1.000 0.120 18 51059884 frameshift variant -/GCAT delins 0.700 0
dbSNP: rs377767340
rs377767340
SMAD4
1 1.000 0.120 18 51065438 frameshift variant G/- del 0.700 0