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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-9090
Allele Number-152164152164
Allele Frequency-0.00059150.0005915
Grpmax Filtering AF
(95% confidence)
-0.01295
East Asian
0.01295
East Asian
Number of homozygotes-11

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Genetic Ancestry Group Frequencies

81515810.01570
5481800.001038
1211200.0004735
11528400.00006543
14150600.00002409
16800800.00001470
0346800.000
01060400.000
029400.000
091200.000
XX417776210.0005272
XY497440200.0006586
Total9015216410.0005915
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 3 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.223-2062G>A
      2. ENST00000397643.3
        HGVSc
        c.403-2062G>A
      3. ENST00000551604.2
        HGVSc
        n.59-2062G>A

In Silico Predictors

  • CADD: 1.27
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: -2.49
Note For more detailed and up to date SpliceAI and Pangolin predictions, please visit our SpliceAI Lookup browser

Genomic Constraint of Surrounding 1kb Region

This variant does not have non coding constraint data for the surrounding region.

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age0123456789101112Variant 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 quality01020304050607080Variant carriers05.00K10.0K15.0K20.0K25.0K30.0K35.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0500K1.00M1.50M2.00M2.50M3.00M3.50M4.00MGenome variants7.016e+4

Value: 7.016e+4 (genome samples)

Site quality approximation for all variants with 0.0005 <= AF < 0.001.

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

Read Data


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