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ExomesGenomesTotal
Filters PassPassDiscrepant frequencies
Allele Count15116375218868
Allele Number498388 *152324650712 *
Allele Frequency0.030330.024630.02900
Grpmax Filtering AF
(95% confidence)
0.03352
European (non-Finnish)
0.03550
European (non-Finnish)
0.03399
European (non-Finnish)
Number of homozygotes27558333

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.

5491210.05921
146414249122640.03446
125537734220.03326
87332220150.02709
69326660130.02599
2861536870.01861
4022894640.01389
2762626830.01051
33368000.008967
3555401240.006573
XX94643237781690.02923
XY94043269341640.02876
Total188686507123330.02900
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 1 transcript in 1 gene.

Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.

  1. intron

    1. USP24

      1. ENST00000294383.7
        MANE Select transcript for USP24
        HGVSc
        c.7315-126A>G

In Silico Predictors

  • CADD: 2.63
  • SpliceAI: 0.00
  • Pangolin: 0.0100
  • phyloP: 0.296
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: 1-55077000-55078000

Read more about this constraint.

ExpectedObservedConstraint
179.6165Z = 1.09
o/e = 0.92
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-55057426-55097426

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age02004006008001.00K1.20K1.40K1.60K1.80KVariant 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 quality02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0KVariant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100KAll 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 variants3.573e+67.127e+6

Value: 7.127e+6 (exome samples), 3.573e+6 (genome samples)

Site quality approximation for all variants with 0.02 <= AF < 0.05.

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

Read Data


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