rs1434536

This is a 3 prime utr variant variant in the BMPR1B gene.

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GWAS Catalog Trait Associations (3)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

body mass index

Huang J et al. “Genomics and phenomics of body mass index reveals a complex disease network.” Nature Communications 13(1):7973 (2022)
Allele C
OR 0.01
p 7.0e-13
N 1,122,049
Large GWAS
European

systolic blood pressure

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele T
OR 0.16
p 3.0e-12
N 1,164,961
Meta-analysisLarge GWAS
European

pulse pressure measurement

Surendran P et al. “Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals.” Nature Genetics 52(12):1314-1332 (2020)
Allele T
OR 0.09
p 3.0e-10
N 1,164,961
Meta-analysisLarge GWAS
European
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ClinVar annotation

Benign★★★☆
4 submitters2 publications

Acromesomelic dysplasia 3 (AMD3); Brachydactyly; Type A2 brachydactyly (BDA2)

View on ClinVar →
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Research that mentions this SNP (1)

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Association analysis of genetic variants in microRNA networks and gastric cancer risk in a Chinese Han population
AssociationN=736Yuan Zhou et al.(2012)· Journal of Cancer Research and Clinical Oncology

Hospital-based case-control study in a Chinese Han population investigating SNPs in microRNA network genes and gastric cancer risk. The study genotyped 19 SNPs in 311 cases and 425 controls, identifying two significant associations: rs2071504 in POLR2A (OR=0.742, p=0.033) and rs895819 in miR-27a (OR=0.771, p=0.037), both showing protective effects against gastric cancer. The rs2071504 variant was additionally associated with lymph node metastasis (p=0.021) and TNM stage (p=0.021).

Traits studied:Depth of invasionGastric cancerHistologic subtypeLymph node metastasisTNM stageTumor locationTumor size
PubMedDOIMetascience Observatory

About BMPR1B

This gene encodes a member of the bone morphogenetic protein (BMP) receptor family of transmembrane serine/threonine kinases. The ligands of this receptor are BMPs, which are members of the TGF-beta superfamily. BMPs are involved in endochondral bone formation and embryogenesis. These proteins transduce their signals through the formation of heteromeric complexes of 2 different types of serine (threonine) kinase receptors: type I receptors of about 50-55 kD and type II receptors of about 70-80 kD. Type II receptors bind ligands in the absence of type I receptors, but they require their respective type I receptors for signaling, whereas type I receptors require their respective type II receptors for ligand binding. Mutations in this gene have been associated with primary pulmonary hypertension. Several transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]

View all BMPR1B variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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