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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-11821182
Allele Number-43078 *43078 *
Allele Frequency-0.027440.02744
Grpmax Filtering AF
(95% confidence)
-0.06306
African/African American
0.06306
African/African American
Number of homozygotes-99

Warning This variant is covered in fewer than 50% of individuals in gnomAD v4.1.0 genomes. This may indicate a low-quality site.

Note This variant is found in a low complexity region.

External Resources

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Genetic Ancestry Group Frequencies

1724800.06855
8861328290.06671
44102200.04305
80349400.02290
1152400.02099
210400.01923
1201863200.006441
7109600.006387
8210200.003806
7257400.002720
XX6462230280.02897
XY5362077610.02580
Total11824307890.02744
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 5 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. ABCB1

      1. ENST00000622132.5
        MANE Select transcript for ABCB1
        HGVSc
        c.2685+460_2685+463dup
      2. ENST00000265724.8
        HGVSc
        c.2685+460_2685+463dup
      3. ENST00000543898.5
        HGVSc
        c.2493+460_2493+463dup

In Silico Predictors

  • CADD: 0.311
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: -0.392
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: 7-87530000-87531000

Read more about this constraint.

ExpectedObservedConstraint
147.2170Z = -1.88
o/e = 1.16
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 7-87510830-87550830

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age0102030405060708090Variant 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 quality0100200300400500600700800900Variant carriers05001.00K1.50K2.00K2.50K3.00K3.50K4.00K4.50K5.00K5.50K6.00KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0200K400K600K800K1.00M1.20M1.40MGenome variants3.295e+6

Value: 3.295e+6 (genome samples)

Site quality approximation for all variants with 0.02 <= AF < 0.05.

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

Read Data


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