rs78249997

This is a regulatory region variant variant in the SYNPO2L-AS1 gene.

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GWAS Catalog Trait Associations (4)

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

systolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)

Allele T

OR 0.41

p 9.0e-32

N 1,028,980

Large GWAS

multi-ancestry

cardioembolic stroke

Cárcel-Márquez J et al. “A Polygenic Risk Score Based on a Cardioembolic Stroke Multitrait Analysis Improves a Clinical Prediction Model for This Stroke Subtype.” Frontiers in Cardiovascular Medicine 9:940696 (2022)

Allele T

OR 10.32

p 6.0e-25

N 362,661

Large GWAS

European

pulse pressure measurement

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)

Allele T

OR 0.25

p 2.0e-23

N 1,028,980

Large GWAS

multi-ancestry

diastolic blood pressure

Keaton JM et al. “Genome-wide analysis in over 1 million individuals of European ancestry yields improved polygenic risk scores for blood pressure traits.” Nature Genetics 56(5):778-791 (2024)

Allele T

OR 0.16

p 1.0e-13

N 1,028,980

Large GWAS

multi-ancestry

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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