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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-2727
Allele Number-152274152274
Allele Frequency-0.00017730.0001773
Grpmax Filtering AF
(95% confidence)
-0.003350
East Asian
0.003350
East Asian
Number of homozygotes-00

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Genetic Ancestry Group Frequencies

25518800.004819
11530000.00006536
16798600.00001471
04157600.000
0347000.000
01061200.000
029400.000
091000.000
0482400.000
0211400.000
XX107781800.0001285
XY177445600.0002283
Total2715227400.0001773
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 38 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+1246A>G
      2. ENST00000327035.10
        HGVSc
        c.135+1246A>G
      3. ENST00000367800.8
        HGVSc
        c.135+1246A>G

In Silico Predictors

  • CADD: 0.145
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: -0.706
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: 6-135489000-135490000

Read more about this constraint.

ExpectedObservedConstraint
162173Z = -0.86
o/e = 1.07
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 6-135469377-135509377

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age012345Variant 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 quality02468101214161820222426Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality01.00M2.00M3.00M4.00M5.00M6.00M7.00M8.00M9.00MGenome variants1.991e+4

Value: 1.991e+4 (genome samples)

Site quality approximation for all variants with 0.0001 <= AF < 0.0002.

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

Read Data


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