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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-77
Allele Number-152298152298
Allele Frequency-0.000045960.00004596
Grpmax Filtering AF
(95% confidence)
-0.0005030
East Asian
0.0005030
East Asian
Number of homozygotes-00

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Genetic Ancestry Group Frequencies

6518600.001157
16801800.00001470
04157000.000
01529000.000
0347000.000
01062200.000
029400.000
091200.000
0482400.000
0211200.000
XX47781600.00005140
XY37448200.00004028
Total715229800.00004596
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 9 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. ENST00000543106.6
        HGVSc
        c.-140+20020A>C
      2. ENST00000546426.5
        HGVSc
        c.-369+20020A>C
      3. ENST00000546703.5
        HGVSc
        c.-258+20020A>C

In Silico Predictors

  • CADD: 1.84
  • Pangolin: 0.00
  • phyloP: -0.712
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: 12-112595000-112596000

Read more about this constraint.

ExpectedObservedConstraint
181.4166Z = 1.15
o/e = 0.91
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 12-112575339-112615339

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age012Variant 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 quality01234567Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality05.00M10.0M15.0M20.0M25.0M30.0MGenome variants1.162e+4

Value: 1.162e+4 (genome samples)

Site quality approximation for all variants with 0 <= AF < 0.00005.

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

Read Data


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