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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-1669916699
Allele Number-150054150054
Allele Frequency-0.11130.1113
Grpmax Filtering AF
(95% confidence)
-0.1902
East Asian
0.1902
East Asian
Number of homozygotes-968968

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Genetic Ancestry Group Frequencies

102251001010.2004
6253408364210.1531
11290280.1242
3528850.1215
3983448230.1154
112310052630.1117
2062082140.09894
4614746290.09713
146015098740.09670
5629675022300.08339
XX8420768824940.1095
XY8279731724740.1131
Total166991500549680.1113
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: 1.69
    • phyloP: -1.87
    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: 12-113141000-113142000

    Read more about this constraint.

    ExpectedObservedConstraint
    160.1127Z = 2.62
    o/e = 0.79
    Z Score not constrainedconstrained2.184.0

    View the genomic constraint values for the 40kb region surrounding this variant: 12-113121325-113161325

    Age Distribution

    • Exome
    • Genome
    • Variant carriers
    • All individuals
    < 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age0100200300400500600700800900Variant 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 quality02.00K4.00K6.00K8.00K10.0K12.0K14.0KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0KAll individuals

    Site Quality Metrics

    • Exome
    • Genome
    1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0100K200K300K400K500K600K700K800K900KGenome variants1.371e+7

    Value: 1.371e+7 (genome samples)

    Site quality approximation for all variants with 0.1 <= AF < 0.2.

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

    Read Data


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