rs6702619

This is a regulatory region variant variant.

▶

GWAS Catalog Trait Associations (6)

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

aortic valve disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.14
p 1.0e-41
N 438,713
Major Consortium StudyLarge GWAS
European

aortic stenosis, aortic valve calcification

Thériault S et al. “Integrative genomic analyses identify candidate causal genes for calcific aortic valve stenosis involving tissue-specific regulation.” Nature Communications 15(1):2407 (2024)
Allele G
OR —
p 4.0e-40
N 956,682
Large GWAS
European
Thériault S et al. “A transcriptome-wide association study identifies PALMD as a susceptibility gene for calcific aortic valve stenosis.” Nature Communications 9(1):988 (2018)
Allele G
OR 1.28
p 2.0e-14
N 2,026
Large GWAS
European

heart valve disease

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.10
p 5.0e-30
N 427,039
Major Consortium StudyLarge GWAS
European

bulb of aorta size

Wild PS et al. “Large-scale genome-wide analysis identifies genetic variants associated with cardiac structure and function.” The Journal of Clinical Investigation 127(5):1798-1812 (2017)
Allele G
OR 0.02
p 1.0e-16
N 30,201
Large GWAS
European

abnormal chest sounds

Verma A et al. “Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.” Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.09
p 5.0e-12
N 606,232
Major Consortium StudyLarge GWAS
multi-ancestry

heart failure

Lee DSM et al. “Common-variant and rare-variant genetic architecture of heart failure across the allele-frequency spectrum.” Nature Genetics 57(4):829-838 (2025)
Allele T
OR 0.02
p 2.0e-8
N 2,358,556
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.

Community Wiki

No community notes yet for this variant. Sign in to start one.

Comments

Sign in to join the discussion.

Loading comments…