|
rs878854769
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs878854765
|
|
CT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs864622252
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs863224507
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs80338965
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.
|
23239472 |
2013 |
|
rs80338965
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.
|
26681312 |
2016 |
|
rs80338965
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis.
|
18823382 |
2009 |
|
rs80338965
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A SMAD4 mutation indicative of juvenile polyposis syndrome in a family previously diagnosed with Menetrier's disease.
|
27375208 |
2016 |
|
rs80338965
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Vessels' morphology in SMAD4 and BMPR1A-related juvenile polyposis.
|
16152648 |
2005 |
|
rs80338965
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Gastric involvement in juvenile polyposis associated with germline SMAD4 mutations: an entity characterized by a mixed hypertrophic and polypoid gastropathy.
|
18355998 |
2008 |
|
rs80338965
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A unifying working hypothesis for juvenile polyposis syndrome and Ménétrier's disease: specific localization or concomitant occurrence of a separate entity?
|
22748914 |
2012 |
|
rs80338965
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling.
|
22316667 |
2012 |
|
rs80338965
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the SMAD4/DPC4 gene in juvenile polyposis.
|
9582123 |
1998 |
|
rs80338965
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
|
23399955 |
2013 |
|
rs80338965
|
|
T |
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 |
|
rs80338965
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
|
28944238 |
2017 |
|
rs80338964
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs80338963
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.
|
9811934 |
1998 |
|
rs80338963
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
A combined syndrome of juvenile polyposis and hereditary haemorrhagic telangiectasia associated with mutations in MADH4 (SMAD4).
|
15031030 |
2004 |
|
rs80338963
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
|
rs80338963
|
|
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 |
|
rs80338963
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.
|
9811934 |
1998 |
|
rs80338963
|
|
G |
0.800 |
GeneticVariation |
CLINVAR |
Smad4 suppresses the tumorigenesis and aggressiveness of neuroblastoma through repressing the expression of heparanase.
|
27595937 |
2016 |
|
rs80338963
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
A structural basis for mutational inactivation of the tumour suppressor Smad4.
|
9214508 |
1997 |
|
rs80338963
|
|
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 |