RS139142865 ACVRL1

Health Risk Chr 12:51920825 snv missense variant
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Associated Conditions
Telangiectasia
hereditary hemorrhagic
type 2
Telangiectasia
hereditary hemorrhagic
type 2
GWAS Studies (1)
Trait Risk Allele OR / Beta P-value Study
ACVRL1 protein levels T OR: 0.33 5E-12 PubMed
Population Frequencies
gnomAD ALL
99.7%
1kG AFR
100%
1kG ALL
0%
1kG AMR
100%
1kG EAS
100%
1kG EUR
0.1%
1kG SAS
100%
Other Variants in ACVRL1
rs121909284 rs28936399 rs121909285 rs387906392 rs121909286 rs28936401 rs387906393 rs121909287 rs121909288 rs28936687
Ask Dr. Hemsworth about this variant