rs429608

This is a upstream gene variant variant in the SKIV2L gene.

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GWAS Catalog Trait Associations (5)

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

degeneration of macula and posterior pole

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 G
OR 0.20
p 1.0e-91
N 426,887
Major Consortium StudyLarge GWAS
European

age-related macular degeneration

Fritsche LG et al. “Seven new loci associated with age-related macular degeneration.” Nature Genetics 45(4):433-9, 439e1-2 (2013)
Allele G
OR 1.74
p 4.0e-89
N 59,494
Large GWAS
multi-ancestry
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 G
OR 0.43
p 2.0e-75
N 442,030
Major Consortium StudyLarge GWAS
European
Chen W et al. “Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration.” Proceedings of the National Academy of Sciences of the United States of America 107(16):7401-6 (2010)
Allele G
OR 2.16
p 3.0e-21
N 3,307
Large GWAS
multi-ancestry

fat pad mass

Harris BHL et al. “New role of fat-free mass in cancer risk linked with genetic predisposition.” Scientific Reports 14(1):7270 (2024)
Allele A
OR 0.02
p 1.0e-12
N 337,196
Large GWAS
European

drug use measurement, macular degeneration

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 G
OR 0.30
p 5.0e-33
N 400,487
Major Consortium StudyLarge GWAS
multi-ancestry

macular degeneration

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 G
OR 0.22
p 4.0e-38
N 400,487
Major Consortium StudyLarge GWAS
multi-ancestry
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ClinVar annotation

not_provided
1 submitter
View on ClinVar →

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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