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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-29262926
Allele Number-152280152280
Allele Frequency-0.019210.01921
Grpmax Filtering AF
(95% confidence)
-0.1959
East Asian
0.1959
East Asian
Number of homozygotes-170170

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.

10685180960.2062
5114818420.1061
66815292300.04368
1281061800.01206
25211200.01184
4474155620.01076
17347200.004896
129400.003401
616802600.0008967
091200.000
XX120977820700.01554
XY1717744601000.02306
Total29261522801700.01921
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 2 transcripts 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. CUX2

      1. ENST00000261726.11
        MANE Select transcript for CUX2
        HGVSc
        c.302-11160C>T
      2. ENST00000397643.3
        HGVSc
        c.482-11160C>T

In Silico Predictors

  • CADD: 2.96
  • SpliceAI: 0.00
  • Pangolin: 0.0200
  • phyloP: -0.175
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: 12-111280000-111281000

Read more about this constraint.

ExpectedObservedConstraint
192.7154Z = 2.79
o/e = 0.8
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 12-111260258-111300258

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age020406080100120140160180200Variant 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 quality02004006008001.00K1.20K1.40K1.60K1.80K2.00K2.20K2.40K2.60KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0200K400K600K800K1.00M1.20M1.40M1.60M1.80MGenome variants3.141e+6

Value: 3.141e+6 (genome samples)

Site quality approximation for all variants with 0.01 <= AF < 0.02.

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

Read Data


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