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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-3676236762
Allele Number-151882151882
Allele Frequency-0.24200.2420
Grpmax Filtering AF
(95% confidence)
-0.2655
European (non-Finnish)
0.2655
European (non-Finnish)
Number of homozygotes-45724572

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.

182476790424740.2687
2642105463280.2505
3697152584390.2423
82834561010.2396
4902114550.2318
93074142610310.2247
6429490.2177
193906250.2130
8284820930.1718
4665158170.09035
XX189827764423850.2445
XY177807423821870.2395
Total3676215188245720.2420
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 20 transcripts in 2 genes.

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

  1. intron

      1. ENST00000641035.1
        Ensembl canonical transcript for
        HGVSc
        n.556-61487T>G
      2. ENST00000641155.1
        HGVSc
        n.476-61487T>G
      3. ENST00000641177.1
        HGVSc
        n.98-52187T>G
      1. ENST00000642129.1
        Ensembl canonical transcript for
        HGVSc
        c.*96-61487T>G
      2. ENST00000641109.1
        HGVSc
        c.*322-61487T>G
      3. ENST00000641346.1
        HGVSc
        c.*270-61487T>G

In Silico Predictors

  • CADD: 0.890
  • Pangolin: 0.00
  • phyloP: -0.177
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: 1-56310000-56311000

Read more about this constraint.

ExpectedObservedConstraint
183.3192Z = -0.64
o/e = 1.05
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-56290687-56330687

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 variants4.807e+7

Value: 4.807e+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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