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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-1313
Allele Number-152222152222
Allele Frequency-0.000085400.00008540
Grpmax Filtering AF
(95% confidence)
-0.001481
East Asian
0.001481
East Asian
Number of homozygotes-00

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Genetic Ancestry Group Frequencies

13519000.002505
04152800.000
01528000.000
0346600.000
01059400.000
029400.000
06802000.000
091200.000
0482400.000
0211400.000
XX77779000.00008999
XY67443200.00008061
Total1315222200.00008540
Include:

Related Variants

Variant Effect Predictor

This variant falls on 0 transcripts in 0 genes.

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

    In Silico Predictors

    • CADD: 0.0950
    • phyloP: -1.41
    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: 6-138352000-138353000

    Read more about this constraint.

    ExpectedObservedConstraint
    178156Z = 1.65
    o/e = 0.88
    Z Score not constrainedconstrained2.184.0

    View the genomic constraint values for the 40kb region surrounding this variant: 6-138332412-138372412

    Age Distribution

    • Exome
    • Genome
    • Variant carriers
    • All individuals
    < 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age012Variant carriers05001.00K1.50K2.00K2.50K3.00K3.50K4.00KAll individuals

    Genotype Quality Metrics

    • Exome
    • Genome
    • Variant carriers
    • All individuals
    0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality0123456789101112Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0KAll individuals

    Site Quality Metrics

    • Exome
    • Genome
    1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality01.00M2.00M3.00M4.00M5.00M6.00M7.00M8.00M9.00M10.0M11.0M12.0M13.0MGenome variants7.612e+3

    Value: 7.612e+3 (genome samples)

    Site quality approximation for all variants with 0.00005 <= AF < 0.0001.

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

    Read Data


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