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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-5228852288
Allele Number-151874151874
Allele Frequency-0.34430.3443
Grpmax Filtering AF
(95% confidence)
-0.4676
Admixed American
0.4676
Admixed American
Number of homozygotes-95649564

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.

72721525417620.4767
157734703690.4545
4192105368400.3979
337912600.3695
76521061360.3632
242116790842970.3565
100294120.3401
127864140820110.3088
6814816600.1414
3675170170.07099
XX267207765048180.3441
XY255687422447460.3445
Total5228815187495640.3443
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 6 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.555+44631C>A
      1. ENST00000642129.1
        Ensembl canonical transcript for
        HGVSc
        c.*95+50761C>A
      2. ENST00000641109.1
        HGVSc
        c.*321+46384C>A
      3. ENST00000641346.1
        HGVSc
        c.*96-32235C>A

In Silico Predictors

  • CADD: 2.93
  • Pangolin: 0.00
  • phyloP: -0.151
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: 1-56432000-56433000

Read more about this constraint.

ExpectedObservedConstraint
221.3198Z = 1.56
o/e = 0.89
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-56412502-56452502

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age02004006008001.00K1.20K1.40K1.60K1.80K2.00K2.20K2.40KVariant 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 quality05.00K10.0K15.0K20.0K25.0K30.0K35.0KVariant carriers05.00K10.0K15.0K20.0K25.0K30.0K35.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0200K400K600K800K1.00M1.20M1.40MGenome variants5.475e+7

Value: 5.475e+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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