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ExomesGenomesTotal
Filters PassPass
Allele Count532692982983098
Allele Number303754 *152116455870 *
Allele Frequency0.17540.19610.1823
Grpmax Filtering AF
(95% confidence)
0.2846
Middle Eastern
0.2658
African/African American
0.2827
Middle Eastern
Number of homozygotes498031348114

Warning This variant is covered in fewer than 50% of individuals in gnomAD v4.1.0 exomes. Allele frequency estimates may not be reliable.

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Genetic Ancestry Group Frequencies

91730701530.2987
134695011218140.2688
3166143803230.2202
125636455013830.1946
2968163302910.1818
3868322675432830.1706
3636229542800.1584
133912100.1458
6171425544980.1450
139214254790.09766
XX3828520854037450.1836
XY4481324733043690.1812
Total8309845587081140.1823
Include:

Related Variants

Other Alternate Alleles

This variant is multiallelic. Other alternate alleles are:

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 2 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. 3' UTR

    1. MAPKAPK5

      1. ENST00000550735.7
        MANE Select transcript for MAPKAPK5
        HGVSc
        c.*7870dup
  2. non coding transcript exon

    1. ADAM1A

      1. ENST00000424240.1
        Ensembl canonical transcript for ADAM1A
        HGVSc
        n.1669dup

In Silico Predictors

  • CADD: 10.8
  • Pangolin: 0.0100
  • phyloP: 6.28
Note For more detailed and up to date SpliceAI and Pangolin predictions, please visit our SpliceAI Lookup browser

Genomic Constraint of Surrounding 1kb Region

Genomic constraint values displayed are for the region: 12-111900000-111901000

Read more about this constraint.

ExpectedObservedConstraint
228.6204Z = 1.62
o/e = 0.89
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 12-111880930-111920930

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals

Site Quality Metrics

  • Exome
  • Genome

Value: 1.982e+8 (exome samples), 3.354e+7 (genome samples)

Site quality approximation for all variants with 0.1 <= AF < 0.2.

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

Read Data


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