SMAD4, SMAD family member 4, 4089

N. diseases: 575; N. variants: 144
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs377767347
rs377767347
0.742 0.520 18 51065549 missense variant G/A;C;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016
dbSNP: rs80338963
rs80338963
0.776 0.280 18 51065548 missense variant C/A;G;T snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms
Neoplasms; Skin and Connective Tissue Diseases 0.700 1.000 1 2016 2016