Help us continue to improve gnomAD by taking 5 minutes to fill out our user survey.
ExomesGenomesTotal
Filters No variantPass
Allele Count22
Allele Number114484114484
Allele Frequency0.000017470.00001747
Grpmax Filtering AF
(95% confidence)
0.00006818
East Asian
Number of homozygotes00

External Resources

Feedback

Report an issue with this variant

Genetic Ancestry Group Frequencies

2281200.0007112
02867800.000
01372800.000
0307400.000
0728800.000
030800.000
05195200.000
091000.000
0387400.000
000-
XX16013400.00001663
XY15435000.00001840
Total211262400.00001776
Include:

Related Variants

Other Alternate Alleles

This variant is multiallelic. Other alternate alleles are:

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: 1.77
    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: 6-137416000-137417000

    Read more about this constraint.

    ExpectedObservedConstraint
    199.4197Z = 0.17
    o/e = 0.99
    Z Score not constrainedconstrained2.184.0

    View the genomic constraint values for the 40kb region surrounding this variant: 6-137396260-137436260

    Age Distribution

    • Exome
    • Genome
    • Variant carriers
    • All individuals
    < 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01Variant 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 quality012Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0KAll individuals

    Site Quality Metrics

    • Exome
    • Genome
    1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality02.00M4.00M6.00M8.00M10.0M12.0M14.0M16.0M18.0M20.0M22.0M24.0M26.0MGenome variants2.709e+3

    Value: 2.709e+3 (genome samples)

    Site quality approximation for all doubleton variants.

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

    Read Data


    Always load read data