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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-154154
Allele Number-152372152372
Allele Frequency-0.0010110.001011
Grpmax Filtering AF
(95% confidence)
-0.02441
East Asian
0.02441
East Asian
Number of homozygotes-11

External Resources

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Genetic Ancestry Group Frequencies

146519010.02813
2211600.0009452
3482800.0006214
11530600.00006533
26804000.00002939
04158800.000
0346800.000
01063000.000
029400.000
091200.000
XX687786600.0008733
XY867450610.001154
Total15415237210.001011
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

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. MYL2

      1. ENST00000228841.15
        MANE Select transcript for MYL2
        HGVSc
        c.94-773T>C
      2. ENST00000548438.1
        HGVSc
        c.94-2239T>C
      3. ENST00000663220.1
        HGVSc
        c.37-773T>C

In Silico Predictors

  • CADD: 0.830
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: 0.708
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: 12-110916000-110917000

Read more about this constraint.

ExpectedObservedConstraint
215178Z = 2.52
o/e = 0.83
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 12-110896563-110936563

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age024681012141618Variant 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 quality020406080100120140Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0200K400K600K800K1.00M1.20M1.40M1.60M1.80M2.00M2.20M2.40M2.60M2.80MGenome variants1.556e+5

Value: 1.556e+5 (genome samples)

Site quality approximation for all variants with 0.001 <= AF < 0.002.

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

Read Data


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