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chr19_15897808_C_A

chr19:15897808 · GRCh38CArs950249128gnomAD AF <0.001%receptor_confirmed

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

Receptor variant-effect scores

PXR
0.225predicted occupancy increase
FXR
0.343predicted occupancy increase
AhR
0.235predicted occupancy increase
-1 decrease0+1 increase

Strongest effect: FXR predicted occupancy increase at p99-scaled 0.343. 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

phyloP conservation
1.23
gnomAD
AF <0.001%
dbSNP
rs950249128
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
CA0.2250.3430.235<0.001%
CG0.0270.0790.018not observed
CT0.0130.063-0.071not observed

Every possible base substitution at chr19:15897808, each scored independently and shown as p99-scaled scores. The gnomAD column shows which substitution is actually seen in the population versus in silico only. Region confidence is the same for every substitution at this position, so it is shown once in the section below.

Region confidence

In receptor peaks: PXR