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
G 0.800 CausalMutation CLINVAR

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

1998
dbSNP: rs80338963
rs80338963
SMAD4
G 0.800 GeneticVariation CLINVAR A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 15031030

2004
dbSNP: rs80338963
rs80338963
SMAD4
A 0.800 CausalMutation CLINVAR

dbSNP: rs80338963
rs80338963
SMAD4
T 0.800 CausalMutation CLINVAR High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. 17873119

2007
dbSNP: rs80338963
rs80338963
SMAD4
T 0.800 CausalMutation CLINVAR Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases. 9811934

1998
dbSNP: rs80338963
rs80338963
SMAD4
G 0.800 GeneticVariation CLINVAR Smad4 suppresses the tumorigenesis and aggressiveness of neuroblastoma through repressing the expression of heparanase. 27595937

2016
dbSNP: rs80338963
rs80338963
SMAD4
T 0.800 CausalMutation CLINVAR A structural basis for mutational inactivation of the tumour suppressor Smad4. 9214508

1997
dbSNP: rs80338963
rs80338963
SMAD4
G 0.800 GeneticVariation CLINVAR High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome. 17873119

2007
dbSNP: rs80338963
rs80338963
SMAD4
T 0.800 CausalMutation CLINVAR SMAD4 mutations found in unselected HHT patients. 16613914

2006
dbSNP: rs80338963
rs80338963
SMAD4
T 0.800 CausalMutation CLINVAR Germline mutations of the dpc4 gene in Korean juvenile polyposis patients. 10797267

2000
dbSNP: rs80338963
rs80338963
SMAD4
T 0.800 CausalMutation CLINVAR Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling. 22316667

2012
dbSNP: rs80338963
rs80338963
SMAD4
T 0.800 CausalMutation CLINVAR Analysis of genetic and phenotypic heterogeneity in juvenile polyposis. 10764709

2000
dbSNP: rs80338963
rs80338963
SMAD4
T 0.800 CausalMutation CLINVAR A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4). 15031030

2004
dbSNP: rs80338963
rs80338963
SMAD4
T 0.800 CausalMutation CLINVAR Comprehensive analysis of SMAD4 mutations and protein expression in juvenile polyposis: evidence for a distinct genetic pathway and polyp morphology in SMAD4 mutation carriers. 11583957

2001
dbSNP: rs80338963
rs80338963
SMAD4
T 0.800 CausalMutation CLINVAR Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. 20101697

2010
dbSNP: rs80338963
rs80338963
SMAD4
G 0.800 GeneticVariation CLINVAR The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. 18823382

2009
dbSNP: rs80338963
rs80338963
SMAD4
T 0.800 CausalMutation CLINVAR The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. 15235019

2004
dbSNP: rs80338963
rs80338963
SMAD4
G 0.800 GeneticVariation CLINVAR Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. 20101697

2010
dbSNP: rs1060500733
rs1060500733
SMAD4
T 0.700 CausalMutation CLINVAR

dbSNP: rs1060500734
rs1060500734
SMAD4
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060500739
rs1060500739
SMAD4
C 0.700 CausalMutation CLINVAR

dbSNP: rs1060500740
rs1060500740
SMAD4
C 0.700 GeneticVariation CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638

2006
dbSNP: rs1060500740
rs1060500740
SMAD4
C 0.700 GeneticVariation CLINVAR Juvenile polyposis syndrome, SMAD4 mutations, and hereditary hemorrhagic telangiectasia. 21572342

2012
dbSNP: rs1060500742
rs1060500742
SMAD4
A 0.700 CausalMutation CLINVAR