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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-436436
Allele Number-152352152352
Allele Frequency-0.0028620.002862
Grpmax Filtering AF
(95% confidence)
-0.07222
East Asian
0.07222
East Asian
Number of homozygotes-1616

External Resources

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Genetic Ancestry Group Frequencies

4075184160.07851
6211400.002838
4347000.001153
91530400.0005881
2483000.0004141
54157800.0001203
36803400.00004410
01063200.000
029400.000
091200.000
XX1927784450.002466
XY24474508110.003275
Total436152352160.002862
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.552-3538A>C
      2. ENST00000487898.1
        HGVSc
        n.574-3538A>C

In Silico Predictors

  • CADD: 10.1
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: 1.37
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: 1-50709000-50710000

Read more about this constraint.

ExpectedObservedConstraint
176.5194Z = -1.32
o/e = 1.1
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-50689429-50729429

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age051015202530354045Variant 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 quality050100150200250300350400Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0K26.0K28.0K30.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0500K1.00M1.50M2.00M2.50M3.00MGenome variants4.731e+5

Value: 4.731e+5 (genome samples)

Site quality approximation for all variants with 0.002 <= AF < 0.005.

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

Read Data


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