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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-44
Allele Number-152302152302
Allele Frequency-0.000026260.00002626
Grpmax Filtering AF
(95% confidence)
-0.0002631
East Asian
0.0002631
East Asian
Number of homozygotes-00

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Genetic Ancestry Group Frequencies

4518000.0007722
04156800.000
01530200.000
0347000.000
01062200.000
029400.000
06801800.000
091200.000
0482800.000
0210800.000
XX37781800.00003855
XY17448400.00001343
Total415230200.00002626
Include:

Related Variants

Variant Effect Predictor

This variant falls on 5 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. GLTP

      1. ENST00000318348.9
        MANE Select transcript for GLTP
        HGVSc
        c.103+5819A>T
      2. ENST00000540772.1
        HGVSc
        c.54+5819A>T
      3. ENST00000544393.5
        HGVSc
        c.103+5819A>T

In Silico Predictors

  • CADD: 10.1
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: 1.54
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: 12-109874000-109875000

Read more about this constraint.

ExpectedObservedConstraint
188.1146Z = 3.07
o/e = 0.78
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 12-109854453-109894453

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01Variant 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 quality01234Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality05.00M10.0M15.0M20.0M25.0M30.0MGenome variants5.694e+3

Value: 5.694e+3 (genome samples)

Site quality approximation for all variants with 0 <= AF < 0.00005.

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

Read Data


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