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ExomesGenomesTotal
Filters PassPass
Allele Count213
Allele Number25125431396282650
Allele Frequency0.0000079600.000031850.00001061
Grpmax Filtering AF
(95% confidence)
0.000009580
Admixed American
Number of homozygotes000
Mean depth of coverage85.431.7

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Genetic Ancestry Group Frequencies

33543400.00008466
012902000.000
02496600.000
01036200.000
01995200.000
02509200.000
03061200.000
0721200.000
XX112934400.000007731
XY215330600.00001305
Total328265000.00001061

* 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 9 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. PSEN1

      1. ENST00000324501.5
        Ensembl canonical transcript for PSEN1
        HGVSc
        c.1249-22G>A
      2. ENST00000261970.3
        HGVSc
        c.1075-22G>A
      3. ENST00000344094.3
        HGVSc
        c.*204-22G>A

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 quality0123Variant 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
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality050.0K100K150K200K250K300K350K400K450K500KExome variants05.00M10.0M15.0M20.0M25.0M30.0M35.0M40.0M45.0MGenome variants4.665e+24.099e+3

Value: 4.099e+3 (exome samples), 4.665e+2 (genome samples)

This is the site quality distribution for all doubleton exome variants 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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