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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-3772837728
Allele Number-151912151912
Allele Frequency-0.24840.2484
Grpmax Filtering AF
(95% confidence)
-0.3831
African/African American
0.3831
African/African American
Number of homozygotes-52305230

Note This variant is found in a low complexity region.

External Resources

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Genetic Ancestry Group Frequencies

Note Local ancestry data is available for this variant by selecting the tab below. See our blog post on local ancestry inference for Admixed American samples in gnomAD for more information.

160804143031290.3881
77294120.2619
5092104790.2419
217912230.2379
7543464850.2177
137296790213520.2022
1985105641740.1879
9615160890.1862
2705152702360.1771
7114812510.1478
XX194927765627070.2510
XY182367425625230.2456
Total3772815191252300.2484
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: 1.81
    • phyloP: -0.0420
    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: 1-51279000-51280000

    Read more about this constraint.

    ExpectedObservedConstraint
    203172Z = 2.18
    o/e = 0.85
    Z Score not constrainedconstrained2.184.0

    View the genomic constraint values for the 40kb region surrounding this variant: 1-51259711-51299711

    Age Distribution

    • Exome
    • Genome
    • Variant carriers
    • All individuals
    < 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age02004006008001.00K1.20K1.40K1.60K1.80KVariant 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 quality02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0K28.0KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0K28.0KAll individuals

    Site Quality Metrics

    • Exome
    • Genome
    1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0200K400K600K800K1.00M1.20M1.40MGenome variants3.719e+7

    Value: 3.719e+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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