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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-1308913089
Allele Number-151954151954
Allele Frequency-0.086140.08614
Grpmax Filtering AF
(95% confidence)
-0.09631
African/African American
0.09631
African/African American
Number of homozygotes-532532

External Resources

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Genetic Ancestry Group Frequencies

5013470430.1444
4092414001660.09884
4865178190.09386
6050679262470.08907
1642114100.07758
97015274230.06351
5490810.05947
2814822100.05827
47810570130.04522
1329200.04452
XX6886776382910.08869
XY6203743162410.08347
Total130891519545320.08614
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

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. FAF1

      1. ENST00000396153.7
        MANE Select transcript for FAF1
        HGVSc
        c.45+6886G>A
      2. ENST00000487898.1
        HGVSc
        n.67+6791G>A

In Silico Predictors

  • CADD: 6.60
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: 0.0870
Note For more detailed and up to date SpliceAI and Pangolin predictions, please visit our SpliceAI Lookup browser

Genomic Constraint of Surrounding 1kb Region

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

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age0100200300400500600700Variant 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 quality01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0K11.0K12.0KVariant carriers05.00K10.0K15.0K20.0K25.0K30.0K35.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0100K200K300K400K500K600K700K800K900K1.00M1.10MGenome variants1.258e+7

Value: 1.258e+7 (genome samples)

Site quality approximation for all variants with 0.05 <= AF < 0.1.

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

Read Data


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