Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057519739
rs1057519739
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
A 0.700 CausalMutation CLINVAR Novel mutations in Smad proteins that inhibit signaling by the transforming growth factor beta in mammalian cells. 17994767

2007

dbSNP: rs1057519739
rs1057519739
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
C 0.700 CausalMutation CLINVAR Novel mutations in Smad proteins that inhibit signaling by the transforming growth factor beta in mammalian cells. 17994767

2007

dbSNP: rs1057519739
rs1057519739
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
A 0.700 CausalMutation CLINVAR Molecular and functional consequences of Smad4 C-terminal missense mutations in colorectal tumour cells. 14715079

2004

dbSNP: rs1057519739
rs1057519739
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
C 0.700 CausalMutation CLINVAR Molecular and functional consequences of Smad4 C-terminal missense mutations in colorectal tumour cells. 14715079

2004

dbSNP: rs1057519739
rs1057519739
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
C 0.700 CausalMutation CLINVAR Role of Smad4 (DPC4) inactivation in human cancer. 12821112

2003

dbSNP: rs1057519739
rs1057519739
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
A 0.700 CausalMutation CLINVAR Role of Smad4 (DPC4) inactivation in human cancer. 12821112

2003

dbSNP: rs1057519739
rs1057519739
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
C 0.700 CausalMutation CLINVAR Transcriptional control by the TGF-beta/Smad signaling system. 10775259

2000

dbSNP: rs1057519739
rs1057519739
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
A 0.700 CausalMutation CLINVAR Transcriptional control by the TGF-beta/Smad signaling system. 10775259

2000

dbSNP: rs1057519739
rs1057519739
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
C 0.700 CausalMutation CLINVAR Inactivation of both alleles of the DPC4/SMAD4 gene in advanced colorectal cancers: identification of seven novel somatic mutations in tumors from Japanese patients. 10479724

1999

dbSNP: rs1057519739
rs1057519739
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
A 0.700 CausalMutation CLINVAR Inactivation of both alleles of the DPC4/SMAD4 gene in advanced colorectal cancers: identification of seven novel somatic mutations in tumors from Japanese patients. 10479724

1999

dbSNP: rs1057519739
rs1057519739
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
A 0.700 CausalMutation CLINVAR TGF-beta signaling and cancer: structural and functional consequences of mutations in Smads. 9679244

1998

dbSNP: rs1057519739
rs1057519739
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
C 0.700 CausalMutation CLINVAR TGF-beta signaling and cancer: structural and functional consequences of mutations in Smads. 9679244

1998

dbSNP: rs1057519739
rs1057519739
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
C 0.700 CausalMutation CLINVAR Somatic alterations of the DPC4 gene in human colorectal cancers in vivo. 8898652

1996

dbSNP: rs1057519739
rs1057519739
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
A 0.700 CausalMutation CLINVAR Somatic alterations of the DPC4 gene in human colorectal cancers in vivo. 8898652

1996

dbSNP: rs1057519740
rs1057519740
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
A 0.700 CausalMutation CLINVAR Novel mutations in Smad proteins that inhibit signaling by the transforming growth factor beta in mammalian cells. 17994767

2007

dbSNP: rs1057519740
rs1057519740
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
A 0.700 CausalMutation CLINVAR Molecular and functional consequences of Smad4 C-terminal missense mutations in colorectal tumour cells. 14715079

2004

dbSNP: rs1057519740
rs1057519740
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
A 0.700 CausalMutation CLINVAR Role of Smad4 (DPC4) inactivation in human cancer. 12821112

2003

dbSNP: rs1057519740
rs1057519740
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
A 0.700 CausalMutation CLINVAR Transcriptional control by the TGF-beta/Smad signaling system. 10775259

2000

dbSNP: rs1057519740
rs1057519740
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
A 0.700 CausalMutation CLINVAR Inactivation of both alleles of the DPC4/SMAD4 gene in advanced colorectal cancers: identification of seven novel somatic mutations in tumors from Japanese patients. 10479724

1999

dbSNP: rs1057519740
rs1057519740
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
A 0.700 CausalMutation CLINVAR TGF-beta signaling and cancer: structural and functional consequences of mutations in Smads. 9679244

1998

dbSNP: rs1057519740
rs1057519740
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
A 0.700 CausalMutation CLINVAR Somatic alterations of the DPC4 gene in human colorectal cancers in vivo. 8898652

1996

dbSNP: rs1057519741
rs1057519741
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.700 CausalMutation CLINVAR Novel mutations in Smad proteins that inhibit signaling by the transforming growth factor beta in mammalian cells. 17994767

2007

dbSNP: rs1057519741
rs1057519741
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.700 CausalMutation CLINVAR Molecular and functional consequences of Smad4 C-terminal missense mutations in colorectal tumour cells. 14715079

2004

dbSNP: rs1057519741
rs1057519741
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.700 CausalMutation CLINVAR Role of Smad4 (DPC4) inactivation in human cancer. 12821112

2003

dbSNP: rs1057519741
rs1057519741
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms
T 0.700 CausalMutation CLINVAR Transcriptional control by the TGF-beta/Smad signaling system. 10775259

2000