|
rs876660720
|
|
Neoplastic Syndromes, Hereditary
|
ATGCAGCAGCAGGCGGCTACTGCACAAGC |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs876660720
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs876660556
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
SMAD2, SMAD3 and SMAD4 mutations in colorectal cancer.
|
23139211 |
2013 |
|
rs876660556
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
High proportion of large genomic deletions and a genotype phenotype update in 80 unrelated families with juvenile polyposis syndrome.
|
17873119 |
2007 |
|
rs876660556
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
|
23399955 |
2013 |
|
rs876660150
|
|
Neoplastic Syndromes, Hereditary
|
CTT |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs876660079
|
|
Neoplastic Syndromes, Hereditary
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs876658694
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs869312781
|
|
Neoplastic Syndromes, Hereditary
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs80338965
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of thoracic aortopathy in patients with juvenile Polyposis Syndrome-Hereditary Hemorrhagic Telangiectasia due to SMAD4.
|
25931195 |
2015 |
|
rs80338965
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling.
|
22316667 |
2012 |
|
rs80338965
|
|
Neoplastic Syndromes, Hereditary
|
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
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.
|
23239472 |
2013 |
|
rs80338965
|
|
Neoplastic Syndromes, Hereditary
|
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
|
|
Neoplastic Syndromes, Hereditary
|
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
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in the SMAD4/DPC4 gene in juvenile polyposis.
|
9582123 |
1998 |
|
rs80338965
|
|
Neoplastic Syndromes, Hereditary
|
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
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
|
28152038 |
2017 |
|
rs80338965
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
|
28944238 |
2017 |
|
rs80338965
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
|
23399955 |
2013 |
|
rs80338963
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutations in DPC4 (SMAD4) cause juvenile polyposis syndrome, but only account for a minority of cases.
|
9811934 |
1998 |
|
rs80338963
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Germline mutations in SMAD4 disrupt bone morphogenetic protein signaling.
|
22316667 |
2012 |
|
rs80338963
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
JP-HHT phenotype in Danish patients with SMAD4 mutations.
|
26572829 |
2016 |
|
rs80338963
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Mutation analysis of 13 driver genes of colorectal cancer-related pathways in Taiwanese patients.
|
26900293 |
2016 |
|
rs80338963
|
|
Neoplastic Syndromes, Hereditary
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome.
|
20101697 |
2010 |