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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-3659736597
Allele Number-152144152144
Allele Frequency-0.24050.2405
Grpmax Filtering AF
(95% confidence)
-0.5829
East Asian
0.5829
East Asian
Number of homozygotes-54555455

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.

310651729300.6005
241548266150.5004
57521528411080.3763
301906480.3322
3078105684400.2913
5622108830.2666
89634721050.2581
155506798418190.2287
6229490.2109
4875415302980.1174
XX178657778225510.2297
XY187327436229040.2519
Total3659715214454550.2405
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. CCDC28A

      1. ENST00000617445.5
        MANE Select transcript for CCDC28A
        HGVSc
        c.477+712G>A

In Silico Predictors

  • CADD: 2.83
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: 0.451
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: 6-138786000-138787000

Read more about this constraint.

ExpectedObservedConstraint
155.3159Z = -0.29
o/e = 1.02
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 6-138766093-138806093

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 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 quality02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0K28.0KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0K28.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0200K400K600K800K1.00M1.20M1.40MGenome variants3.832e+7

Value: 3.832e+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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