Help us continue to improve gnomAD by taking 5 minutes to fill out our user survey.
ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-709709
Allele Number-151964151964
Allele Frequency-0.0046660.004666
Grpmax Filtering AF
(95% confidence)
-0.01833
East Asian
0.01833
East Asian
Number of homozygotes-33

External Resources

Feedback

Report an issue with this variant

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.

111514210.02159
70347000.02017
53480410.01103
329400.01020
11211200.005208
651527010.004257
1494143200.003596
2276797200.003340
201055800.001894
091000.000
XX3447770800.004427
XY3657425630.004915
Total70915196430.004666
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: 0.535
    • phyloP: 0.287
    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: 1-60358000-60359000

    Read more about this constraint.

    ExpectedObservedConstraint
    178.8207Z = -2.11
    o/e = 1.16
    Z Score not constrainedconstrained2.184.0

    View the genomic constraint values for the 40kb region surrounding this variant: 1-60338557-60378557

    Age Distribution

    • Exome
    • Genome
    • Variant carriers
    • All individuals
    < 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age0510152025303540455055Variant 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 quality050100150200250300350400450500550600650Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0K28.0K30.0KAll individuals

    Site Quality Metrics

    • Exome
    • Genome
    1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0500K1.00M1.50M2.00M2.50M3.00MGenome variants6.128e+5

    Value: 6.128e+5 (genome samples)

    Site quality approximation for all variants with 0.002 <= AF < 0.005.

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

    Read Data


    Always load read data