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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-1118511185
Allele Number-152208152208
Allele Frequency-0.073480.07348
Grpmax Filtering AF
(95% confidence)
-0.2688
East Asian
0.2688
East Asian
Number of homozygotes-615615

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Genetic Ancestry Group Frequencies

144851562010.2808
176906170.1943
4983472400.1434
3429440.1156
1602152961000.1047
1882110110.08910
84010604290.07922
3344818120.06932
4349680221630.06394
171641530380.04132
XX5545777902880.07128
XY5640744183270.07579
Total111851522086150.07348
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

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: 0.509
    • phyloP: -0.314
    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: 12-108599000-108600000

    Read more about this constraint.

    ExpectedObservedConstraint
    234.9202Z = 2.14
    o/e = 0.86
    Z Score not constrainedconstrained2.184.0

    View the genomic constraint values for the 40kb region surrounding this variant: 12-108579636-108619636

    Age Distribution

    • Exome
    • Genome
    • Variant carriers
    • All individuals
    < 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age050100150200250300350400450500550600Variant 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 quality01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0KAll individuals

    Site Quality Metrics

    • Exome
    • Genome
    1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0100K200K300K400K500K600K700K800K900K1.00M1.10MGenome variants1.176e+7

    Value: 1.176e+7 (genome samples)

    Site quality approximation for all variants with 0.05 <= AF < 0.1.

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

    Read Data


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