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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-7465274652
Allele Number-151832151832
Allele Frequency-0.49170.4917
Grpmax Filtering AF
(95% confidence)
-0.6770
African/African American
0.6770
African/African American
Number of homozygotes-1976919769

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Genetic Ancestry Group Frequencies

283114141096600.6837
3339511410900.6529
5729121730.6272
79391526821150.5200
145292400.4966
103521102670.4905
49111056411560.4649
133334682450.3844
253086790646920.3727
175947883310.3674
XX3814877666100920.4912
XY365047416696770.4922
Total74652151832197690.4917
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: 15.5
    • phyloP: 2.28
    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: 12-114228000-114229000

    Read more about this constraint.

    ExpectedObservedConstraint
    217.8201Z = 1.14
    o/e = 0.92
    Z Score not constrainedconstrained2.184.0

    View the genomic constraint values for the 40kb region surrounding this variant: 12-114208397-114248397

    Age Distribution

    • Exome
    • Genome
    • Variant carriers
    • All individuals
    < 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age02004006008001.00K1.20K1.40K1.60K1.80K2.00K2.20K2.40K2.60K2.80K3.00KVariant 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 quality05.00K10.0K15.0K20.0K25.0K30.0K35.0K40.0KVariant carriers05.00K10.0K15.0K20.0K25.0K30.0K35.0K40.0KAll individuals

    Site Quality Metrics

    • Exome
    • Genome
    1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0200K400K600K800K1.00M1.20M1.40MGenome variants7.311e+7

    Value: 7.311e+7 (genome samples)

    Site quality approximation for all variants with 0.2 <= AF < 0.5.

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

    Read Data


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