Home / Variant
chr5_1119673_C_A
For a non-coding regulatory variant the nearest gene by distance is frequently not the regulated gene.
Receptor variant-effect scores
PXR
0.606GoF
FXR
0.812GoF
AhR
0.797GoF
-1 LoF0+1 GoF
Strongest effect: FXR GoF at p99-scaled 0.812. Impact is large relative to 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