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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-6797667976
Allele Number-152024152024
Allele Frequency-0.44710.4471
Grpmax Filtering AF
(95% confidence)
-0.5284
Admixed American
0.5284
Admixed American
Number of homozygotes-1542415424

External Resources

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Genetic Ancestry Group Frequencies

82261528622390.5381
4879101230.5352
274551647290.5316
203894146449640.4917
95321082310.4521
130294320.4422
205348084650.4270
143434622860.4142
277616796456730.4085
3798105646820.3595
XX346317774077680.4455
XY333457428476560.4489
Total67976152024154240.4471
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 20 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. RPH3A

      1. ENST00000389385.9
        MANE Select transcript for RPH3A
        HGVSc
        c.230+7346C>G
      2. ENST00000415485.7
        HGVSc
        c.230+7346C>G
      3. ENST00000543106.6
        HGVSc
        c.230+7346C>G

In Silico Predictors

  • CADD: 1.42
  • SpliceAI: 0.0100
  • Pangolin: 0.0300
  • phyloP: -0.240
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: 12-112855000-112856000

Read more about this constraint.

ExpectedObservedConstraint
189.6174Z = 1.13
o/e = 0.92
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 12-112835188-112875188

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age02004006008001.00K1.20K1.40K1.60K1.80K2.00K2.20K2.40K2.60K2.80K3.00KVariant 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 quality05.00K10.0K15.0K20.0K25.0K30.0K35.0K40.0KVariant carriers05.00K10.0K15.0K20.0K25.0K30.0K35.0K40.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0200K400K600K800K1.00M1.20M1.40MGenome variants6.873e+7

Value: 6.873e+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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