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chr17_6700161_G_C

chr17:6700161 · GRCh38G → Crs1567620250gnomAD AF <0.001%receptor_confirmed
nearest gene · SLC13A5 · within gene

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

Receptor variant-effect scores

PXR
-0.807LoF
FXR
-1.000LoF
AhR
-0.208LoF
-1 LoF0+1 GoF

Strongest effect: FXR LoF at p99-scaled -1.000. Impact is at or beyond the receptor-specific p99 reference magnitude.

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
-0.67
gnomAD
AF <0.001%↗
dbSNP
rs1567620250↗
Region tier
receptor_confirmed

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

All substitutions at this position

SubstitutionPXRFXRAhRgnomAD AF
G→A-0.326-0.5290.011not observed
G→C-0.807-1.000-0.208<0.001%
G→T-0.849-1.000-0.258not observed

Every possible base substitution at chr17:6700161, 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: PXRFXR

Multi receptor overlap: PXR,FXR