Home / Variant

chr22_37560398_G_C

chr22:37560398 · GRCh38GCrs1924983017receptor_confirmed

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

Receptor variant-effect scores

PXR
-0.250LoF
FXR
-0.007Neutral
AhR
-0.130LoF
-1 LoF0+1 GoF

Strongest effect: PXR LoF at p99-scaled -0.250. 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
0.81
dbSNP
rs1924983017
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
GA-0.007-0.0660.125not observed
GC-0.250-0.007-0.130not observed
GT-0.2260.0300.108not observed

Every possible base substitution at chr22:37560398, 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