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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-7340373403
Allele Number-152120152120
Allele Frequency-0.48250.4825
Grpmax Filtering AF
(95% confidence)
-0.8202
East Asian
0.8202
East Asian
Number of homozygotes-1949719497

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Genetic Ancestry Group Frequencies

4345516618290.8411
277484148093230.6689
3197482810560.6622
162294450.5510
4919081240.5407
105121082720.4986
170434684170.4913
59851528811700.3915
4128105868060.3899
245926799444550.3617
XX371627775297840.4780
XY362417436897130.4873
Total73403152120194970.4825
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: 3.74
    • phyloP: 0.449
    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: 6-138991000-138992000

    Read more about this constraint.

    ExpectedObservedConstraint
    172.6158Z = 1.11
    o/e = 0.92
    Z Score not constrainedconstrained2.184.0

    View the genomic constraint values for the 40kb region surrounding this variant: 6-138971476-139011476

    Age Distribution

    • Exome
    • Genome
    • Variant carriers
    • All individuals
    < 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age05001.00K1.50K2.00K2.50K3.00KVariant 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 variants7.563e+7

    Value: 7.563e+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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