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ExomesGenomesTotal
Filters PassNo variant
Allele Count101
Allele Number14615421522921613834
Allele Frequency6.842e-76.196e-7
Grpmax Filtering AF
(95% confidence)
Number of homozygotes00

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Genetic Ancestry Group Frequencies

1117988208.475e-7
07505400.000
05989200.000
02959600.000
04487400.000
06400000.000
0606000.000
091200.000
09107800.000
06248600.000
XX081232200.000
XY180151200.000001248
Total1161383406.196e-7
Include:

Related Variants

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.Asp352Val
        Domains
      2. ENST00000482958.1
        HGVSp
        p.Asp352Val
      3. ENST00000497011.5
        HGVSp
        p.Asp352Val
  2. intron

    1. BCHE

      1. ENST00000479451.5
        HGVSc
        c.107+7335A>T
      2. ENST00000488954.1
        HGVSc
        c.107+7335A>T
    2. LINC01322

      1. ENST00000651449.1
        Ensembl canonical transcript for LINC01322
        HGVSc
        n.1008-15913T>A

In Silico Predictors

  • CADD: 26.1
  • REVEL: 0.984
  • SpliceAI: 0.00
  • Pangolin: 0.0100
  • phyloP: 6.36
  • PolyPhen (max): 0.997
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: 3-165809979-165849979

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality01Variant carriers050.0K100K150K200K250K300K350K400KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0500K1.00M1.50M2.00M2.50M3.00M3.50M4.00M4.50M5.00MExome variants3.782e+3

Value: 3.782e+3 (exome samples)

Site quality approximation for all singleton variants.

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

Read Data


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