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

2010
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: 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: rs1555685248
rs1555685248
SMAD4
C 0.700 GeneticVariation CLINVAR The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. 22810475

2012
dbSNP: rs1555685248
rs1555685248
SMAD4
C 0.700 GeneticVariation CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638

2006
dbSNP: rs1555685248
rs1555685248
SMAD4
C 0.700 GeneticVariation CLINVAR Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis. 16152648

2005
dbSNP: rs1555686086
rs1555686086
SMAD4
T 0.700 GeneticVariation CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638

2006
dbSNP: rs1555686086
rs1555686086
SMAD4
T 0.700 GeneticVariation CLINVAR The prevalence of hereditary hemorrhagic telangiectasia in juvenile polyposis syndrome. 22810475

2012
dbSNP: rs1555686086
rs1555686086
SMAD4
T 0.700 GeneticVariation CLINVAR Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis. 16152648

2005
dbSNP: rs1555686616
rs1555686616
SMAD4
GA 0.700 GeneticVariation 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