Gene: BMPR1A ×
Source: CLINVAR ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1554891331
rs1554891331
BMPR1A
GAA 0.700 CausalMutation CLINVAR Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes. 28944238

2017
dbSNP: rs1057517610
rs1057517610
BMPR1A
G 0.700 GeneticVariation CLINVAR BMPR1A mutations in juvenile polyposis affect cellular localization. 23433720

2013
dbSNP: rs1554888310
rs1554888310
BMPR1A
T 0.700 GeneticVariation CLINVAR BMPR1A mutations in juvenile polyposis affect cellular localization. 23433720

2013
dbSNP: rs199476086
rs199476086
BMPR1A
A 0.700 GeneticVariation CLINVAR BMPR1A mutations in juvenile polyposis affect cellular localization. 23433720

2013
dbSNP: rs199476087
rs199476087
BMPR1A
C 0.700 GeneticVariation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013
dbSNP: rs587782682
rs587782682
BMPR1A
T 0.700 CausalMutation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013
dbSNP: rs786201038
rs786201038
BMPR1A
C 0.700 CausalMutation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013
dbSNP: rs786201040
rs786201040
BMPR1A
T 0.700 CausalMutation CLINVAR Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps. 23399955

2013
dbSNP: rs199476087
rs199476087
BMPR1A
C 0.700 GeneticVariation CLINVAR Structure of the Alk1 extracellular domain and characterization of its bone morphogenetic protein (BMP) binding properties. 22799562

2012
dbSNP: rs1057517610
rs1057517610
BMPR1A
G 0.700 GeneticVariation CLINVAR The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. 18823382

2009
dbSNP: rs1554888310
rs1554888310
BMPR1A
T 0.700 GeneticVariation CLINVAR The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. 18823382

2009
dbSNP: rs730881431
rs730881431
BMPR1A
T 0.700 CausalMutation CLINVAR The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. 18823382

2009
dbSNP: rs1131691182
rs1131691182
BMPR1A
G 0.700 CausalMutation CLINVAR A family with two consecutive nonsense mutations in BMPR1A causing juvenile polyposis. 18262054

2008
dbSNP: rs876658515
rs876658515
BMPR1A
T 0.700 GeneticVariation CLINVAR Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. 18178612

2008
dbSNP: rs587782494
rs587782494
BMPR1A
T 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
dbSNP: rs587782682
rs587782682
BMPR1A
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
dbSNP: rs764466442
rs764466442
BMPR1A
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
dbSNP: rs876660442
rs876660442
BMPR1A
CA 0.700 CausalMutation CLINVAR Mutation screening in juvenile polyposis syndrome. 16436638

2006
dbSNP: rs1057517610
rs1057517610
BMPR1A
G 0.700 GeneticVariation CLINVAR Challenging colonic polyposis pedigrees: differential diagnosis, surveillance, and management concerns. 14734220

2004
dbSNP: rs1057517610
rs1057517610
BMPR1A
G 0.700 GeneticVariation CLINVAR The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. 15235019

2004
dbSNP: rs1554888310
rs1554888310
BMPR1A
T 0.700 GeneticVariation CLINVAR Molecular recognition of BMP-2 and BMP receptor IA. 15064755

2004
dbSNP: rs1554891044
rs1554891044
BMPR1A
T 0.700 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
A 0.700 GeneticVariation CLINVAR The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. 15235019

2004
dbSNP: rs199476087
rs199476087
BMPR1A
C 0.700 GeneticVariation CLINVAR The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. 15235019

2004
dbSNP: rs730881431
rs730881431
BMPR1A
T 0.700 CausalMutation CLINVAR The prevalence of MADH4 and BMPR1A mutations in juvenile polyposis and absence of BMPR2, BMPR1B, and ACVR1 mutations. 15235019

2004