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: rs121912580
rs121912580
SMAD4
7 0.807 0.280 18 51067036 missense variant G/A;C;T snv 0.800 1.000 1 2004 2004
dbSNP: rs121912581
rs121912581
SMAD4
2 0.925 0.200 18 51065521 missense variant G/A snv 0.800 1.000 1 2004 2004
dbSNP: rs1555686624
rs1555686624
SMAD4
3 0.882 0.480 18 51067189 splice donor variant T/C snv 0.700 0
dbSNP: rs1555687599
rs1555687599
SMAD4
1 1.000 0.160 18 51078393 frameshift variant -/TA delins 0.700 0
dbSNP: rs281875322
rs281875322
SMAD4
6 0.807 0.480 18 51078306 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs377767323
rs377767323
SMAD4
1 1.000 0.160 18 51048738 stop gained G/A snv 0.700 0
dbSNP: rs377767334
rs377767334
SMAD4
3 0.925 0.200 18 51058143 frameshift variant -/G delins 0.700 0
dbSNP: rs377767345
rs377767345
SMAD4
1 1.000 0.160 18 51065522 missense variant G/A snv 0.700 0
dbSNP: rs377767347
rs377767347
SMAD4
14 0.742 0.520 18 51065549 missense variant G/A;C;T snv 0.700 0
dbSNP: rs377767349
rs377767349
SMAD4
1 1.000 0.160 18 51065553 inframe deletion GTT/- delins 0.700 0
dbSNP: rs377767351
rs377767351
SMAD4
1 1.000 0.160 18 51065566 frameshift variant TC/- delins 0.700 0
dbSNP: rs377767355
rs377767355
SMAD4
1 1.000 0.160 18 51067027 missense variant T/A;C snv 0.700 0
dbSNP: rs377767360
rs377767360
SMAD4
4 0.882 0.240 18 51076662 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs377767378
rs377767378
SMAD4
1 1.000 0.160 18 51078400 frameshift variant G/- delins 0.700 0
dbSNP: rs377767379
rs377767379
SMAD4
1 1.000 0.160 18 51078404 frameshift variant CC/T delins 0.700 0
dbSNP: rs377767380
rs377767380
SMAD4
1 1.000 0.160 18 51078403 frameshift variant C/- delins 0.700 0
dbSNP: rs377767382
rs377767382
SMAD4
1 1.000 0.160 18 51078406 missense variant T/C;G snv 0.700 0
dbSNP: rs377767383
rs377767383
SMAD4
1 1.000 0.160 18 51078408 stop gained C/T snv 0.700 0
dbSNP: rs377767385
rs377767385
SMAD4
1 1.000 0.160 18 51078418 frameshift variant GAAGTACTTCATAC/- delins 0.700 0
dbSNP: rs377767387
rs377767387
SMAD4
1 1.000 0.160 18 51076777 splice donor variant G/A snv 0.700 0
dbSNP: rs483352871
rs483352871
SMAD4
1 1.000 0.160 18 51065877 intron variant A/- delins 0.700 0
dbSNP: rs80338963
rs80338963
SMAD4
11 0.776 0.280 18 51065548 missense variant C/A;G;T snv 0.700 0
dbSNP: rs80338965
rs80338965
SMAD4
5 0.851 0.480 18 51067121 frameshift variant CAGA/- delins 0.700 0