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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-1944119441
Allele Number-152254152254
Allele Frequency-0.12770.1277
Grpmax Filtering AF
(95% confidence)
-0.3283
African/African American
0.3283
African/African American
Number of homozygotes-25872587

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.

138154149223670.3330
1786153001110.1167
2372114200.1121
5665182260.1092
292483280.06043
54110624160.05092
1429410.04762
213668032370.03140
1891200.01974
36347210.01037
XX99417779413380.1278
XY95007446012490.1276
Total1944115225425870.1277
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

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. intron

    1. PDE7B

      1. ENST00000308191.11
        MANE Select transcript for PDE7B
        HGVSc
        c.82+38863A>G

In Silico Predictors

  • CADD: 3.53
  • SpliceAI: 0.00
  • Pangolin: 0.0100
  • phyloP: -0.131
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: 6-135986000-135987000

Read more about this constraint.

ExpectedObservedConstraint
181.9179Z = 0.21
o/e = 0.98
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 6-135966387-136006387

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01002003004005006007008009001.00K1.10K1.20KVariant 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 quality02.00K4.00K6.00K8.00K10.0K12.0K14.0KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0100K200K300K400K500K600K700K800K900KGenome variants1.791e+7

Value: 1.791e+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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