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ExomesGenomesTotal
Filters PassNo variant
Allele Count202
Allele Number14618901523581614248
Allele Frequency0.0000013680.000001239
Grpmax Filtering AF
(95% confidence)
3.000e-7
European (non-Finnish)
2.800e-7
European (non-Finnish)
Number of homozygotes00

External Resources

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Genetic Ancestry Group Frequencies

2118003600.000001695
07506600.000
06003400.000
02960600.000
04488400.000
06405000.000
0606200.000
091000.000
09109000.000
06251000.000
XX181250200.000001231
XY180174600.000001247
Total2161424800.000001239
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 6 transcripts in 2 genes.

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

  1. intron

    1. ATP1A3

      1. ENST00000648268.1
        MANE Select transcript for ATP1A3
        HGVSc
        c.2542+3G>A
      2. ENST00000543770.5
        HGVSc
        c.2575+3G>A
      3. ENST00000545399.6
        HGVSc
        c.2581+3G>A
      1. ENST00000644613.1
        Ensembl canonical transcript for
        HGVSc
        c.2542+3G>A

In Silico Predictors

  • CADD: 10.5
  • SpliceAI: 0.00
  • Pangolin: -0.0100
  • phyloP: 5.93
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 quality012Variant carriers050.0K100K150K200K250K300K350K400KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0500K1.00M1.50M2.00M2.50M3.00M3.50M4.00M4.50M5.00M5.50M6.00M6.50MExome variants1.759e+3

Value: 1.759e+3 (exome samples)

Site quality approximation for all doubleton variants.

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

Read Data


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