rs11125895

This variant is located in the FAM161A gene.

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GWAS Catalog Trait Associations (1)

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

level of Phosphatidylinositol (18:0_18:2) in blood serum

Tabassum R et al. “Lipidome- and Genome-Wide Study to Understand Sex Differences in Circulatory Lipids.” Journal of the American Heart Association 11(19):e027103 (2022)

Allele C

OR 0.17

p 2.0e-8

N 4,642

Large GWAS

European

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ClinVar annotation

Benign★★★☆

6 submitters2 publications

Retinitis pigmentosa; not provided; Retinitis pigmentosa 28; Retinal dystrophy

View on ClinVar →

About FAM161A

This gene belongs to the FAM161 family. It is expressed mainly in the retina. Mouse studies suggested that this gene is involved in development of retinal progenitors during embryogenesis, and that its activity is restricted to mature photoreceptors after birth. Mutations in this gene cause autosomal recessive retinitis pigmentosa-28. Alternatively spliced transcript variants have been identified.[provided by RefSeq, Jan 2011]

View all FAM161A variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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