rs3796619

This is a coding sequence variant variant in the RNF212 gene.

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GWAS Catalog Trait Associations (1)

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

recombination rate

Kong A et al. “Sequence variants in the RNF212 gene associate with genome-wide recombination rate.” Science (new York, N.y.) 319(5868):1398-401 (2008)

Allele T

OR 70.70

p 3.0e-24

N 1,887

Large GWAS

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ClinVar annotation

Association

1 submitter1 publication

RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1 (RRQTL1)

View on ClinVar →

About RNF212

This gene encodes a RING finger protein that may function as a ubiquitin ligase. The encoded protein may be involved in meiotic recombination. This gene is located within a linkage disequilibrium block and polymorphisms in this gene may influence recombination rates. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Oct 2010]

View all RNF212 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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