Gene: SMAD4 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs281875324
rs281875324
SMAD4
0.800 GeneticVariation UNIPROT Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. 12417513

2002
dbSNP: rs281875324
rs281875324
SMAD4
0.800 GeneticVariation UNIPROT Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. 9811934

1998
dbSNP: rs80338963
rs80338963
SMAD4
0.800 GeneticVariation UNIPROT Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. 9811934

1998
dbSNP: rs80338963
rs80338963
SMAD4
0.800 GeneticVariation UNIPROT Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. 12417513

2002
dbSNP: rs121912581
rs121912581
SMAD4
0.700 GeneticVariation UNIPROT Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. 9811934

1998
dbSNP: rs121912581
rs121912581
SMAD4
0.700 GeneticVariation UNIPROT Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. 12417513

2002
dbSNP: rs80338963
rs80338963
SMAD4
A 0.800 CausalMutation CLINVAR

dbSNP: rs1060500742
rs1060500742
SMAD4
A 0.700 CausalMutation CLINVAR

dbSNP: rs1555687377
rs1555687377
SMAD4
A 0.700 GeneticVariation CLINVAR Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis. 16152648

2005
dbSNP: rs1555687377
rs1555687377
SMAD4
A 0.700 GeneticVariation CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638

2006
dbSNP: rs1555687377
rs1555687377
SMAD4
A 0.700 GeneticVariation CLINVAR The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. 22810475

2012
dbSNP: rs1555687572
rs1555687572
SMAD4
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1568211588
rs1568211588
SMAD4
A 0.700 CausalMutation CLINVAR A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 15031030

2004
dbSNP: rs377767328
rs377767328
SMAD4
A 0.700 CausalMutation CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638

2006
dbSNP: rs377767329
rs377767329
SMAD4
A 0.700 CausalMutation CLINVAR

dbSNP: rs377767347
rs377767347
SMAD4
A 0.700 CausalMutation CLINVAR Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. 10764709

2000
dbSNP: rs377767347
rs377767347
SMAD4
A 0.700 CausalMutation CLINVAR Germline mutations of the dpc4 gene in Korean juvenile polyposis patients. 10797267

2000
dbSNP: rs377767347
rs377767347
SMAD4
A 0.700 CausalMutation CLINVAR High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. 17873119

2007
dbSNP: rs377767347
rs377767347
SMAD4
A 0.700 CausalMutation CLINVAR SMAD4 mutations found in unselected HHT patients. 16613914

2006
dbSNP: rs377767347
rs377767347
SMAD4
A 0.700 CausalMutation CLINVAR Missense mutations of MADH4: characterization of the mutational hot spot and functional consequences in human tumors. 15014009

2004
dbSNP: rs377767347
rs377767347
SMAD4
A 0.700 CausalMutation CLINVAR Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. 20101697

2010
dbSNP: rs377767347
rs377767347
SMAD4
A 0.700 CausalMutation CLINVAR Smad4 suppresses the tumorigenesis and aggressiveness of neuroblastoma through repressing the expression of heparanase. 27595937

2016
dbSNP: rs377767347
rs377767347
SMAD4
A 0.700 CausalMutation CLINVAR Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. 9811934

1998
dbSNP: rs377767352
rs377767352
SMAD4
A 0.700 CausalMutation CLINVAR

dbSNP: rs377767354
rs377767354
SMAD4
A 0.700 CausalMutation CLINVAR