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Genomes
Filters Pass
Allele Count48
Allele Number152160
Allele Frequency0.0003155
Grpmax Filtering AF
(95% confidence)
0.006470
East Asian
Number of homozygotes0
Mean depth of coverage31.4

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Genetic Ancestry Group Frequencies

44520600.008452
3483400.0006206
1209200.0004780
06800000.000
01061000.000
01527400.000
091200.000
031600.000
04144800.000
0346800.000
XX207782200.0002570
XY287433800.0003767
Total4815216000.0003155
Include:

Related Variants

Variant Effect Predictor

This variant falls on 6 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. AHI1

      1. ENST00000265602.11
        MANE Select transcript for AHI1
        HGVSc
        c.135+2419G>A
      2. ENST00000327035.10
        HGVSc
        c.135+2419G>A
      3. ENST00000367800.8
        HGVSc
        c.135+2419G>A

In Silico Predictors

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

  • CADD: 4.60
  • SpliceAI: 0.00 (no_consequence)

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 6-135488000-135489000

Read more about this constraint.

ExpectedObservedConstraint
174.7194Z = -1.46
o/e = 1.11
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 6-135468204-135508204

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals

Site Quality Metrics

  • Exome
  • Genome

Value: 4.315e+4 (genome samples)

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

Read Data


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