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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-11
Allele Number-152156152156
Allele Frequency-0.0000065720.000006572
Grpmax Filtering AF
(95% confidence)
-
Number of homozygotes-00

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Genetic Ancestry Group Frequencies

1519600.0001925
04142400.000
01527600.000
0347000.000
01061600.000
031600.000
06802400.000
091200.000
0483000.000
0209200.000
XX07783400.000
XY17432200.00001345
Total115215600.000006572
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. SLC1A7

      1. ENST00000371494.9
        MANE Select transcript for SLC1A7
        HGVSc
        c.216-4464G>A
      2. ENST00000371491.4
        HGVSc
        c.216-4464G>A
      3. ENST00000611397.5
        HGVSc
        c.216-13663G>A

In Silico Predictors

  • CADD: 6.13
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: 0.586
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: 1-53119000-53120000

Read more about this constraint.

ExpectedObservedConstraint
186.4174Z = 0.91
o/e = 0.93
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-53099437-53139437

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 quality01Variant carriers01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0K11.0K12.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality010.0M20.0M30.0M40.0M50.0M60.0M70.0M80.0M90.0MGenome variants1.623e+3

Value: 1.623e+3 (genome samples)

Site quality approximation for all singleton variants.

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

Read Data


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