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ExomesGenomesTotal
Filters PassPass
Allele Count426
Allele Number18322521981205206
Allele Frequency0.000021830.000090990.00002924
Grpmax Filtering AF
(95% confidence)
0.0001035
African/African American
0.00005967
African/African American
Number of homozygotes000
Number of hemizygotes112
Mean depth of coverage86.822.6

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Genetic Ancestry Group Frequencies

619059020.0003148
028052000.000
092489000.000
07672000.000
014875000.000
018645000.000
019080000.000
05334000.000
XX4129444000.00003090
XY275762020.00002640
Total6205206020.00002924

* Allele frequencies for some sub-continental populations were not computed for genome samples.

Hemizygote counts are not available for subpopulations.

Include:

Related Variants

Liftover

This variant lifts over to the following GRCh38 variant:

Variant Effect Predictor

This variant falls on 1 transcript in 1 gene.

Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.

  1. synonymous

    1. SRPX2

      1. ENST00000373004.3
        Ensembl canonical transcript for SRPX2
        HGVSp
        p.Tyr241Tyr
        Domains

ClinVar

ClinVar Variation ID
2428063
Germline classification
Likely benign
Review status
criteria provided, single submitter (1 star)
Last evaluated
March 19, 2022

or find more information on the ClinVar website. Data displayed here is from ClinVar's February 1, 2025 release.

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age012Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality012345Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100K110K120KAll individuals

Note: This plot may include low-quality genotypes that were excluded from allele counts in the tables above.

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0100K200K300K400K500K600K700K800KExome variants01.00M2.00M3.00M4.00M5.00M6.00M7.00M8.00M9.00M10.0M11.0M12.0M13.0MGenome variants1.217e+31.576e+4

Value: 1.576e+4 (exome samples), 1.217e+3 (genome samples)

This is the site quality distribution for all exome variants with 0 <= AF < 0.00005 and all doubleton genome variants.

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

Read Data


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