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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-1497014970
Allele Number-152220152220
Allele Frequency-0.098340.09834
Grpmax Filtering AF
(95% confidence)
-0.1259
African/African American
0.1259
African/African American
Number of homozygotes-789789

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.

4693472360.1351
5348415283270.1288
9991040.1088
6793680003400.09990
184211660.08696
2529430.08503
100315284400.06562
65710606230.06195
275482290.05703
117518810.02255
XX7853777904120.1010
XY7117744303770.09562
Total149701522207890.09834
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. IQCD

      1. ENST00000416617.3
        MANE Select transcript for IQCD
        HGVSc
        c.730-1604G>A
      2. ENST00000299732.6
        HGVSc
        c.729+5021G>A
      3. ENST00000546692.1
        HGVSc
        c.730-1604G>A

In Silico Predictors

  • CADD: 0.126
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: -0.693
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: 12-113202000-113203000

Read more about this constraint.

ExpectedObservedConstraint
169126Z = 3.31
o/e = 0.75
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 12-113182417-113222417

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age0100200300400500600700800Variant 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 quality01.00K2.00K3.00K4.00K5.00K6.00K7.00K8.00K9.00K10.0K11.0K12.0K13.0KVariant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0100K200K300K400K500K600K700K800K900K1.00M1.10MGenome variants1.466e+7

Value: 1.466e+7 (genome samples)

Site quality approximation for all variants with 0.05 <= AF < 0.1.

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

Read Data


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