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ExomesGenomesTotal
Filters AC0Pass
Allele Count044
Allele Number14 *152180152194 *
Allele Frequency0.0000.000026280.00002628
Grpmax Filtering AF
(95% confidence)
Number of homozygotes000

Warning This variant is covered in fewer than 50% of individuals in gnomAD v4.1.0 exomes. Allele frequency estimates may not be reliable.

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Genetic Ancestry Group Frequencies

1209200.0004780
1346600.0002885
1519000.0001927
14143400.00002413
01527800.000
01063000.000
031600.000
06805200.000
091200.000
0482400.000
XX27784000.00002569
XY27435400.00002690
Total415219400.00002628
Include:

Related Variants

Other Alternate Alleles

This variant is multiallelic. Other alternate alleles are:

Variant Effect Predictor

This variant falls on 1 transcript in 1 gene.

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

  1. 3' UTR

    1. HEBP2

      1. ENST00000607197.6
        MANE Select transcript for HEBP2
        HGVSc
        c.*1202G>A

In Silico Predictors

  • CADD: 7.33
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: 0.921
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: 6-138414000-138415000

Read more about this constraint.

ExpectedObservedConstraint
226182Z = 2.93
o/e = 0.81
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 6-138394280-138434280

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100K110KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality01234Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality02.00M4.00M6.00M8.00M10.0M12.0M14.0MExome variants05.00M10.0M15.0M20.0M25.0M30.0MGenome variants5.617e+32.900e+2

Value: 2.900e+2 (exome samples), 5.617e+3 (genome samples)

Site quality approximation for all variants with 0 <= AF < 0.00005.

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

Read Data


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