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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-2929
Allele Number-152308152308
Allele Frequency-0.00019040.0001904
Grpmax Filtering AF
(95% confidence)
-0.003677
East Asian
0.003677
East Asian
Number of homozygotes-00

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Genetic Ancestry Group Frequencies

27518200.005210
1211400.0004730
16801800.00001470
04157400.000
01529600.000
0347000.000
01062400.000
029400.000
091200.000
0482400.000
XX137782800.0001670
XY167448000.0002148
Total2915230800.0001904
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 40 transcripts in 2 genes.

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.3427-3401T>G
      2. ENST00000367800.8
        HGVSc
        c.3427-3401T>G
      3. ENST00000457866.6
        HGVSc
        c.3427-3401T>G
      1. ENST00000444302.1
        Ensembl canonical transcript for
        HGVSc
        n.124-1075A>C
  2. non coding transcript exon

    1. AHI1

      1. ENST00000681556.1
        HGVSc
        n.1009T>G
      2. ENST00000681754.1
        HGVSc
        n.714T>G

In Silico Predictors

  • CADD: 4.76
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: -0.0770
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: 6-135303000-135304000

Read more about this constraint.

ExpectedObservedConstraint
180.9200Z = -1.42
o/e = 1.11
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 6-135283959-135323959

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01234Variant 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 quality0246810121416182022242628Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0KAll 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 variants3.101e+4

Value: 3.101e+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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