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ExomesGenomesTotal
Filters AC0No variant
Allele Count000
Allele Number14570441521141609158
Allele Frequency0.0000.000
Grpmax Filtering AF
(95% confidence)
Number of homozygotes00

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Genetic Ancestry Group Frequencies

07487200.000
05994800.000
02949400.000
04478000.000
06316200.000
0604800.000
0117674000.000
091200.000
09094000.000
06226200.000
XX080978400.000
XY079937400.000
Total0160915800.000
Include:

Related Variants

Other Alternate Alleles

This variant is multiallelic. Other alternate alleles are:

Variant Effect Predictor

This variant falls on 3 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. ANKH

      1. ENST00000284268.8
        MANE Select transcript for ANKH
        HGVSc
        c.96+12C>A
      2. ENST00000513115.1
        HGVSc
        n.121+12C>A
  2. synonymous

    1. ANKH

      1. ENST00000505140.1
        HGVSp
        p.Gly36Gly

In Silico Predictors

  • CADD: 20.2
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: 2.30
Note For more detailed and up to date SpliceAI and Pangolin predictions, please visit our SpliceAI Lookup browser

Genomic Constraint of Surrounding 1kb Region

This variant does not have non coding constraint data for the surrounding region.

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality01Variant carriers050.0K100K150K200K250K300K350KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality02.00M4.00M6.00M8.00M10.0M12.0M14.0MExome variants1.828e+3

Value: 1.828e+3 (exome 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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