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ExomesGenomesTotal
Filters PassPass
Allele Count425084060483112
Allele Number148732 *152026300758 *
Allele Frequency0.28580.26710.2763
Grpmax Filtering AF
(95% confidence)
0.3788
Middle Eastern
0.2888
East Asian
0.3950
Middle Eastern
Number of homozygotes6346559811944

Warning This variant is covered in fewer than 50% of individuals in gnomAD v4.1.0 exomes. Allele frequency estimates may not be reliable.

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.

403910940.4429
47711181030.4267
353893266710.3794
3664123765630.2961
6106206669540.2955
5092174327570.2921
4681116367268080.2860
4964205046370.2421
188982662520.2285
101684648811050.2187
XX4200715116460400.2779
XY4110514959459040.2748
Total83112300758119440.2763
Include:

Related Variants

Other Alternate Alleles

This variant is multiallelic. Other alternate alleles are:

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: 5.66
    • phyloP: 0.0420
    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: 1-53142000-53143000

    Read more about this constraint.

    ExpectedObservedConstraint
    178.3140Z = 2.87
    o/e = 0.79
    Z Score not constrainedconstrained2.184.0

    View the genomic constraint values for the 40kb region surrounding this variant: 1-53122753-53162753

    Age Distribution

    • Exome
    • Genome
    • Variant carriers
    • All individuals
    < 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age02004006008001.00K1.20K1.40K1.60K1.80K2.00K2.20K2.40K2.60K2.80KVariant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100K110KAll individuals

    Genotype Quality Metrics

    • Exome
    • Genome
    • Variant carriers
    • All individuals
    0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality05.00K10.0K15.0K20.0K25.0K30.0K35.0K40.0K45.0K50.0K55.0KVariant carriers05.00K10.0K15.0K20.0K25.0K30.0K35.0K40.0K45.0K50.0K55.0KAll individuals

    Site Quality Metrics

    • Exome
    • Genome
    1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0KExome variants0200K400K600K800K1.00M1.20M1.40MGenome variants4.050e+72.561e+7

    Value: 2.561e+7 (exome samples), 4.050e+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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