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ExomesGenomesTotal
Filters PassPass
Allele Count819
Allele Number24362431276274900
Allele Frequency0.000032840.000031970.00003274
Grpmax Filtering AF
(95% confidence)
0.00003007
European (non-Finnish)
Number of homozygotes000
Mean depth of coverage43.327.0

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Genetic Ancestry Group Frequencies

812264400.00006523
13046600.00003282
03520600.000
02447800.000
01015400.000
01979200.000
02508400.000
0707600.000
XX412507400.00003198
XY514982600.00003337
Total927490000.00003274

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

Include:

Related Variants

Liftover

This variant lifts over to the following GRCh38 variant:

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. synonymous

    1. EED

      1. ENST00000263360.6
        Ensembl canonical transcript for EED
        HGVSp
        p.Asp32Asp
        Domains
        • PTHR10253 (hmmpanther)
      2. ENST00000327320.4
        HGVSp
        p.Asp32Asp
        Domains
        • PTHR10253 (hmmpanther)
      3. ENST00000351625.6
        HGVSp
        p.Asp32Asp
        Domains
        • PTHR10253 (hmmpanther)
  2. non coding transcript exon

    1. EED

      1. ENST00000525244.1
        HGVSc
        n.58C>T

ClinVar

ClinVar Variation ID
796895
Germline classification
Likely benign
Review status
criteria provided, single submitter (1 star)
Last evaluated
June 18, 2019

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> 80Age01Variant 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 quality0123456789Variant carriers05.00K10.0K15.0K20.0K25.0K30.0K35.0K40.0K45.0K50.0K55.0KAll 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 variants05.00M10.0M15.0M20.0M25.0M30.0M35.0M40.0M45.0MGenome variants3.454e+27.590e+3

Value: 7.590e+3 (exome samples), 3.454e+2 (genome samples)

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

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

Read Data


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