rs3213758

This is a variant in the RPGRIP1L gene that changes a aspartate to an asparagine.

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GWAS Catalog Trait Associations (2)

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

body mass index

Turcot V et al. “Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity.” Nature Genetics 50(1):26-41 (2018)

Allele C

OR 0.02

p 5.0e-11

N 526,508

Large GWAS

multi-ancestry

Vitiligo

Cheong KA et al. “Three new single nucleotide polymorphisms identified by a genome-wide association study in Korean patients with vitiligo.” Journal of Korean Medical Science 28(5):775-9 (2013)

Allele A

OR 2.77

p 6.0e-11

N 212

Small GWAS

East Asian

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ClinVar annotation

Likely Benign★★★☆

13 submitters2 publications

Familial aplasia of the vermis; Joubert syndrome 7 (JBTS7); Meckel syndrome, type 5 (MKS5); Meckel-Gruber syndrome; Nephronophthisis 8; not specified

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About RPGRIP1L

The protein encoded by this gene can localize to the basal body-centrosome complex or to primary cilia and centrosomes in ciliated cells. The encoded protein has been found to interact with nephrocystin-4. Defects in this gene are a cause of Joubert syndrome type 7 (JBTS7) and Meckel syndrome type 5 (MKS5). [provided by RefSeq, Jun 2016]