Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121434418
rs121434418
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C1832702
Disease:
BRACHYDACTYLY, TYPE A2 		0.810 GeneticVariation UNIPROT Functional investigations of the R486Q mutation were performed and compared with the previously reported BDA2-causing mutation R486W and WT BMPR1B. 16957682 2006
dbSNP: rs121434418
rs121434418
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C1832702
Disease:
BRACHYDACTYLY, TYPE A2 		0.810 GeneticVariation BEFREE Functional investigations of the R486Q mutation were performed and compared with the previously reported BDA2-causing mutation R486W and WT BMPR1B. 16957682 2006
dbSNP: rs121434419
rs121434419
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C1832702
Disease:
BRACHYDACTYLY, TYPE A2 		0.810 GeneticVariation BEFREE Functional investigations of the R486Q mutation were performed and compared with the previously reported BDA2-causing mutation R486W and WT BMPR1B. 16957682 2006
dbSNP: rs121434419
rs121434419
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C1832702
Disease:
BRACHYDACTYLY, TYPE A2 		0.810 GeneticVariation UNIPROT Functional investigations of the R486Q mutation were performed and compared with the previously reported BDA2-causing mutation R486W and WT BMPR1B. 16957682 2006
dbSNP: rs121434418
rs121434418
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C1832702
Disease:
BRACHYDACTYLY, TYPE A2 		0.810 GeneticVariation UNIPROT Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. 14523231 2003
dbSNP: rs121434419
rs121434419
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C1832702
Disease:
BRACHYDACTYLY, TYPE A2 		0.810 GeneticVariation UNIPROT Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. 14523231 2003
dbSNP: rs121434418
rs121434418
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C1832702
Disease:
BRACHYDACTYLY, TYPE A2 		T 0.810 CausalMutation CLINVAR
dbSNP: rs121434419
rs121434419
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C1832702
Disease:
BRACHYDACTYLY, TYPE A2 		A 0.810 CausalMutation CLINVAR
dbSNP: rs869025614
rs869025614
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C4225183
Disease:
BRACHYDACTYLY, TYPE A1, D 		0.800 GeneticVariation UNIPROT Two novel disease-causing variants in BMPR1B are associated with brachydactyly type A1. 25758993 2015
dbSNP: rs121434417
rs121434417
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C1832702
Disease:
BRACHYDACTYLY, TYPE A2 		0.800 GeneticVariation UNIPROT A novel R486Q mutation in BMPR1B resulting in either a brachydactyly type C/symphalangism-like phenotype or brachydactyly type A2. 16957682 2006
dbSNP: rs121434417
rs121434417
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C1832702
Disease:
BRACHYDACTYLY, TYPE A2 		0.800 GeneticVariation UNIPROT Mutations in bone morphogenetic protein receptor 1B cause brachydactyly type A2. 14523231 2003
dbSNP: rs121434417
rs121434417
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C1832702
Disease:
BRACHYDACTYLY, TYPE A2 		A 0.800 CausalMutation CLINVAR
dbSNP: rs745854387
rs745854387
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C4225404
Disease:
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.800 GeneticVariation UNIPROT
dbSNP: rs745854387
rs745854387
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C4225404
Disease:
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		T 0.800 CausalMutation CLINVAR
dbSNP: rs863225041
rs863225041
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C4225404
Disease:
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		C 0.800 CausalMutation CLINVAR
dbSNP: rs863225041
rs863225041
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C4225404
Disease:
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		0.800 GeneticVariation UNIPROT
dbSNP: rs869025614
rs869025614
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C4225183
Disease:
BRACHYDACTYLY, TYPE A1, D 		C 0.800 CausalMutation CLINVAR
dbSNP: rs12645001
rs12645001
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C1305855
Disease:
Body mass index 		A 0.700 GeneticVariation GWASCAT Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry. 30239722 2019
dbSNP: rs3821964
rs3821964
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C0871470
Disease:
Systolic Pressure 		T 0.700 GeneticVariation GWASCAT Trans-ethnic association study of blood pressure determinants in over 750,000 individuals. 30578418 2019
dbSNP: rs1347345
rs1347345
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C0871470
Disease:
Systolic Pressure 		A 0.700 GeneticVariation GWASCAT Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 30224653 2018
dbSNP: rs1434538
rs1434538
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C1956346
Disease:
Coronary Artery Disease 		T 0.700 GeneticVariation GWASCAT Identification of 64 Novel Genetic Loci Provides an Expanded View on the Genetic Architecture of Coronary Artery Disease. 29212778 2018
dbSNP: rs1544387
rs1544387
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C4317009
Disease:
Diverticular Diseases 		T 0.700 GeneticVariation GWASCAT Genome-wide association analyses identify 39 new susceptibility loci for diverticular disease. 30177863 2018
dbSNP: rs17616243
rs17616243
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C0036341
Disease:
Schizophrenia 		T 0.700 GeneticVariation GWASCAT Evidence for genetic contribution to the increased risk of type 2 diabetes in schizophrenia. 30470734 2018
dbSNP: rs1553941890
rs1553941890
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C4225183
Disease:
BRACHYDACTYLY, TYPE A1, D 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1553941890
rs1553941890
Entrez Id: 658
Gene Symbol: BMPR1B
BMPR1B
CUI: C4225404
Disease:
ACROMESOMELIC DYSPLASIA, DEMIRHAN TYPE 		A 0.700 CausalMutation CLINVAR