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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-3333
Allele Number-152220152220
Allele Frequency-0.00021680.0002168
Grpmax Filtering AF
(95% confidence)
-0.002719
East Asian
0.002719
East Asian
Number of homozygotes-00

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Genetic Ancestry Group Frequencies

21517400.004059
111528600.0007196
1210600.0004748
04155200.000
0346600.000
01059600.000
029400.000
06801000.000
091200.000
0482400.000
XX137780600.0001671
XY207441400.0002688
Total3315222000.0002168
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 1 transcript 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. MAP3K5

      1. ENST00000359015.5
        MANE Select transcript for MAP3K5
        HGVSc
        c.613-2084C>T

In Silico Predictors

  • CADD: 9.59
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: 1.44
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: 6-136700000-136701000

Read more about this constraint.

ExpectedObservedConstraint
208.1216Z = -0.55
o/e = 1.04
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 6-136680766-136720766

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age0123Variant carriers05001.00K1.50K2.00K2.50K3.00K3.50K4.00KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality051015202530Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0500K1.00M1.50M2.00M2.50M3.00M3.50M4.00M4.50M5.00M5.50M6.00MGenome variants3.990e+4

Value: 3.990e+4 (genome samples)

Site quality approximation for all variants with 0.0002 <= AF < 0.0005.

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

Read Data


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