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ExomesGenomesTotal
Filters PassNo variant
Allele Count303
Allele Number14615401522661613806
Allele Frequency0.0000020530.000001859
Grpmax Filtering AF
(95% confidence)
Number of homozygotes00

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Genetic Ancestry Group Frequencies

16249200.00001600
16399200.00001563
1117990608.475e-7
07503000.000
05988600.000
02959600.000
04486000.000
0606000.000
090800.000
09107600.000
XX181232200.000001231
XY280148400.000002495
Total3161380600.000001859
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 6 transcripts in 2 genes.

Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.

  1. missense

    1. BCHE

      1. ENST00000264381.8
        MANE Select transcript for BCHE
        HGVSp
        p.Thr355Ala
        Domains
      2. ENST00000482958.1
        HGVSp
        p.Thr355Ala
      3. ENST00000497011.5
        HGVSp
        p.Thr355Ala
  2. intron

    1. BCHE

      1. ENST00000479451.5
        HGVSc
        c.107+7343A>G
      2. ENST00000488954.1
        HGVSc
        c.107+7343A>G
    2. LINC01322

      1. ENST00000651449.1
        Ensembl canonical transcript for LINC01322
        HGVSc
        n.1008-15921T>C

In Silico Predictors

  • CADD: 11.5
  • REVEL: 0.283
  • SpliceAI: 0.00
  • Pangolin: 0.0100
  • phyloP: 0.0560
  • PolyPhen (max): 0.0110
Note For more detailed and up to date SpliceAI and Pangolin predictions, please visit our SpliceAI Lookup browser

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 3-165829000-165830000

Read more about this constraint.

ExpectedObservedConstraint
183.6199Z = -1.13
o/e = 1.08
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 3-165809971-165849971

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals

Site Quality Metrics

  • Exome
  • Genome

Value: 2.676e+3 (exome samples)

Site quality approximation for all variants with 0 <= AF < 0.00005.

Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.

Read Data


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