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chr11_507049_G_A

chr11:507049 · GRCh38G → Ars1850334875gnomAD AF <0.001%ATAC_only
nearest gene · RNH1 · within gene

For a non-coding regulatory variant the nearest gene by distance is frequently not the regulated gene.

Receptor variant-effect scores

PXR
-0.008Neutral
FXR
-0.052Neutral
AhR
-0.222LoF
-1 LoF0+1 GoF

Strongest effect: AhR LoF at p99-scaled -0.222. Impact is moderate on the receptor-specific p99 scale.

The p99-scaled score divides the raw delta by the receptor-specific 99th percentile of |delta| in the reference peak population, then clips to −1 to 1. It is a comparable effect scale, not a percentile rank. AhR is exploratory, from a single replicate.

Cross-annotations

No external database record for this variant. It is a scored in silico saturation SNV.

Mirrored from ClinVar, GTEx, GWAS Catalog, JASPAR/FIMO, gnomAD and phyloP. See Databases.

Region confidence

In receptor peaks: none