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Genomes
Filters Pass
Allele Count37
Allele Number80642
Allele Frequency0.0004588
Grpmax Filtering AF
(95% confidence)
0.0007708
African/African American
Number of homozygotes0
Mean depth of coverage32.9

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Genetic Ancestry Group Frequencies

332479200.001331
21288200.0001553
11050800.00009517
12103400.00004754
011200.000
0373000.000
027200.000
0480200.000
099200.000
0151800.000
XX163277600.0004882
XY214786600.0004387
Total378064200.0004588
Include:

Related Variants

Variant Effect Predictor

This variant falls on 2 transcripts in 2 genes.

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+52828C>T
    2. AL138828.1

      1. ENST00000626414.1
        HGVSc
        n.157-7215G>A

In Silico Predictors

Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.

  • CADD: 0.633
  • SpliceAI: 0.00 (no_consequence)

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 6-136000000-136001000

Read more about this constraint.

ExpectedObservedConstraint
110.2118Z = -0.74
o/e = 1.07
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 6-135980352-136020352

Age Distribution

Age distribution is based on the full gnomAD dataset, not the selected subset.

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01234Variant carriers05001.00K1.50K2.00K2.50K3.00K3.50K4.00K4.50KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality05101520253035404550Variant carriers01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0500K1.00M1.50M2.00M2.50M3.00M3.50M4.00M4.50M5.00M5.50M6.00MGenome variants5.313e+4

Value: 5.313e+4 (genome samples)

Site quality approximation for all variants with 0.0002 <= AF < 0.0005.

Read Data


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