Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs199476087
rs199476087
BMPR1A
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
dbSNP: rs199476088
rs199476088
BMPR1A
0.800 GeneticVariation UNIPROT Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 27854360

2017
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: rs199476087
rs199476087
BMPR1A
0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015
dbSNP: rs199476087
rs199476087
BMPR1A
0.800 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574

2015
dbSNP: rs199476088
rs199476088
BMPR1A
0.800 GeneticVariation UNIPROT A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 25394175

2015
dbSNP: rs199476088
rs199476088
BMPR1A
0.800 GeneticVariation UNIPROT ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes. 25645574

2015
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 Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP-HHT syndrome. 20101697

2010
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: 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 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
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: rs199476087
rs199476087
BMPR1A
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
dbSNP: rs199476088
rs199476088
BMPR1A
0.800 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628

2004
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
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 The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. 15235019

2004
dbSNP: rs199476086
rs199476086
BMPR1A
0.800 GeneticVariation UNIPROT Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation. 12630959

2003
dbSNP: rs199476087
rs199476087
BMPR1A
0.800 GeneticVariation UNIPROT Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation. 12630959

2003
dbSNP: rs199476088
rs199476088
BMPR1A
0.800 GeneticVariation UNIPROT Identification of a novel BMPR1A germline mutation in a Korean juvenile polyposis patient without SMAD4 mutation. 12630959

2003
dbSNP: rs199476086
rs199476086
BMPR1A
0.800 GeneticVariation UNIPROT Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. 12417513

2002
dbSNP: rs199476086
rs199476086
BMPR1A
0.800 GeneticVariation UNIPROT Juvenile polyposis: massive gastric polyposis is more common in MADH4 mutation carriers than in BMPR1A mutation carriers. 12136244

2002
dbSNP: rs199476087
rs199476087
BMPR1A
0.800 GeneticVariation UNIPROT Germline SMAD4 or BMPR1A mutations and phenotype of juvenile polyposis. 12417513

2002