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ExomesGenomesTotal
Filters PassPass
Allele Count13316
Allele Number13593621522301511592
Allele Frequency0.0000095630.000019710.00001058
Grpmax Filtering AF
(95% confidence)
0.00006378
African/African American
0.00001919
African/African American
0.00005454
African/African American
Number of homozygotes101

External Resources

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Genetic Ancestry Group Frequencies

87215200.0001109
58501610.00005881
15613200.00001782
15889600.00001698
1109677209.118e-7
02832200.000
04421000.000
06338800.000
0579200.000
091200.000
XX775733600.000009243
XY975425610.00001193
Total16151159210.00001058
Include:

Related Variants

Other Alternate Alleles

This variant is multiallelic. Other alternate alleles are:

Variant Effect Predictor

This variant falls on 12 transcripts in 1 gene.

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

  1. intron

    1. ANO10

      1. ENST00000292246.8
        MANE Select transcript for ANO10
        HGVSc
        c.139+57_139+77del
      2. ENST00000350459.8
        HGVSc
        c.139+57_139+77del
      3. ENST00000396091.7
        HGVSc
        c.139+57_139+77del

In Silico Predictors

  • CADD: 0.600
  • SpliceAI: 0.00
  • Pangolin: 0.0100
  • phyloP: -0.455
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: 3-43605000-43606000

Read more about this constraint.

ExpectedObservedConstraint
179.4156Z = 1.75
o/e = 0.87
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 3-43585636-43625636

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age012Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100K110KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality02468101214Variant carriers050.0K100K150K200K250K300K350KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality02.00M4.00M6.00M8.00M10.0M12.0M14.0MExome variants05.00M10.0M15.0M20.0M25.0M30.0MGenome variants4.143e+31.233e+4

Value: 1.233e+4 (exome samples), 4.143e+3 (genome 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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