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ExomesGenomesTotal
Filters PassPassDiscrepant frequencies
Allele Count20909254091263183
Allele Number9861901521261138316
Allele Frequency0.21200.35560.2312
Grpmax Filtering AF
(95% confidence)
0.8211
East Asian
0.8316
East Asian
0.8249
East Asian
Number of homozygotes340621410148163

External Resources

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Genetic Ancestry Group Frequencies

Note Local ancestry data is available for this variant by selecting the tab below. See our blog post on local ancestry inference for Admixed American samples in gnomAD for more information.

3111937372130160.8327
4377263776151170.6863
115393418420520.3376
96332761790.2940
168856151025770.2745
113934499219310.2532
138548829190126150.1671
6748432865430.1559
132908100.1454
2084198221230.1051
XX132871572660245880.2320
XY130312565656235750.2304
Total2631831138316481630.2312
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this 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. intron

    1. MAPKAPK5

      1. ENST00000550735.7
        MANE Select transcript for MAPKAPK5
        HGVSc
        c.970-147T>C
      2. ENST00000549875.1
        HGVSc
        c.523-147T>C
      3. ENST00000551404.6
        HGVSc
        c.970-147T>C
  2. non coding transcript exon

    1. MAPKAPK5

      1. ENST00000547067.1
        HGVSc
        n.764T>C

In Silico Predictors

  • CADD: 2.11
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: 0.366
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: 12-111888000-111889000

Read more about this constraint.

ExpectedObservedConstraint
205.8150Z = 3.89
o/e = 0.73
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 12-111868341-111908341

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0KVariant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100K110KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality020.0K40.0K60.0K80.0K100K120K140K160KVariant carriers020.0K40.0K60.0K80.0K100K120K140K160KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0KExome variants0200K400K600K800K1.00M1.20M1.40MGenome variants7.181e+71.011e+8

Value: 1.011e+8 (exome samples), 7.181e+7 (genome samples)

Site quality approximation for all variants with 0.2 <= AF < 0.5.

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

Read Data


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