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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-42464246
Allele Number-152254152254
Allele Frequency-0.027890.02789
Grpmax Filtering AF
(95% confidence)
-0.05702
South Asian
0.05702
South Asian
Number of homozygotes-7979

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.

3034822150.06284
280568006520.04125
38810594120.03662
147519000.02832
73347200.02103
40211000.01896
1961530200.01281
2884155200.006931
591200.005482
129400.003401
XX222177804360.02855
XY202574450430.02720
Total4246152254790.02789
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: 13.1
    • phyloP: 1.29
    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: 1-52555000-52556000

    Read more about this constraint.

    ExpectedObservedConstraint
    170.1174Z = -0.3
    o/e = 1.02
    Z Score not constrainedconstrained2.184.0

    View the genomic constraint values for the 40kb region surrounding this variant: 1-52535580-52575580

    Age Distribution

    • Exome
    • Genome
    • Variant carriers
    • All individuals
    < 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age020406080100120140160180200220240260280Variant 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 quality05001.00K1.50K2.00K2.50K3.00K3.50K4.00KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0K28.0K30.0KAll individuals

    Site Quality Metrics

    • Exome
    • Genome
    1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0200K400K600K800K1.00M1.20M1.40MGenome variants3.804e+6

    Value: 3.804e+6 (genome samples)

    Site quality approximation for all variants with 0.02 <= AF < 0.05.

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

    Read Data


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