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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-2438724387
Allele Number-152142152142
Allele Frequency-0.16030.1603
Grpmax Filtering AF
(95% confidence)
-0.4001
East Asian
0.4001
East Asian
Number of homozygotes-24392439

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.

215051844560.4147
134948101900.2805
2383105702590.2254
125716797611340.1849
2751152802760.1800
3432114280.1623
3029410.1020
2653468130.07641
253941534820.06113
691200.006579
XX120917776811990.1555
XY122967437412400.1653
Total2438715214224390.1603
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 15 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. OAS2

      1. ENST00000392583.7
        MANE Select transcript for OAS2
        HGVSc
        c.177+3961T>C
      2. ENST00000342315.8
        HGVSc
        c.177+3961T>C
      3. ENST00000449768.2
        HGVSc
        c.177+3961T>C
      1. ENST00000552784.1
        Ensembl canonical transcript for
        HGVSc
        n.353+34653A>G

In Silico Predictors

  • CADD: 5.72
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: -0.446
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: 12-112982000-112983000

Read more about this constraint.

ExpectedObservedConstraint
72.159Z = 1.54
o/e = 0.82
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 12-112962746-113002746

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age02004006008001.00K1.20K1.40KVariant 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 quality02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0100K200K300K400K500K600K700K800K900KGenome variants2.419e+7

Value: 2.419e+7 (genome samples)

Site quality approximation for all variants with 0.1 <= AF < 0.2.

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

Read Data


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