Gene: SMAD4 ×
Source: CLINVAR ×
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: rs377767347
rs377767347
SMAD4
13 0.742 0.520 18 51065549 missense variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs80338963
rs80338963
SMAD4
11 0.776 0.280 18 51065548 missense variant C/A;G;T snv 0.700 1.000 1 2016 2016