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Genomes
Filters Pass
Allele Count3506
Allele Number151998
Allele Frequency0.02307
Grpmax Filtering AF
(95% confidence)
0.07777
African/African American
Number of homozygotes123
Mean depth of coverage31.8

External Resources

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Genetic Ancestry Group Frequencies

3311413621220.08005
36209200.01721
1451528210.009488
231600.006329
4481400.0008309
86798000.0001177
01061400.000
091000.000
0515800.000
0347000.000
XX188577768750.02424
XY162174230480.02184
Total35061519981230.02307
Include:

Related Variants

Variant Effect Predictor

This variant falls on 2 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. PITX3

      1. ENST00000370002.8
        MANE Select transcript for PITX3
        HGVSc
        c.321+142C>G
      2. ENST00000539804.1
        HGVSc
        c.321+142C>G

In Silico Predictors

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

  • CADD: 0.399
  • SpliceAI: 0.00 (no_consequence)

Genomic Constraint of Surrounding 1kb Region

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

ClinVar

ClinVar Variation ID
1246648
Conditions
not provided
Germline classification
Benign
Review status
criteria provided, single submitter (1 star)
Last evaluated
December 12, 2018

or find more information on the ClinVar website. Data displayed here is from ClinVar's February 1, 2025 release.

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age050100150200250300Variant 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 quality05001.00K1.50K2.00K2.50K3.00KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0200K400K600K800K1.00M1.20M1.40MGenome variants2.404e+6

Value: 2.404e+6 (genome samples)

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

Read Data


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