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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-1693816938
Allele Number-152160152160
Allele Frequency-0.11130.1113
Grpmax Filtering AF
(95% confidence)
-0.1660
South Asian
0.1660
South Asian
Number of homozygotes-11191119

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.

1946105601830.1843
8474818780.1758
6402415085330.1542
11991090.1308
3529230.1199
5235182230.1009
210211260.09943
144815298650.09465
5181680102090.07618
2273470100.06542
XX8406777885450.1081
XY8532743725740.1147
Total1693815216011190.1113
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. PCSK9

      1. ENST00000302118.5
        MANE Select transcript for PCSK9
        HGVSc
        c.800-471C>T
      2. ENST00000673903.1
        HGVSc
        c.425-471C>T
      3. ENST00000490692.1
        HGVSc
        n.1621-471C>T

In Silico Predictors

  • CADD: 4.45
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: -0.0730
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: 1-55055000-55056000

Read more about this constraint.

ExpectedObservedConstraint
95.473Z = 2.3
o/e = 0.76
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-55035522-55075522

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals

Site Quality Metrics

  • Exome
  • Genome

Value: 1.556e+7 (genome samples)

Site quality approximation for all variants with 0.1 <= AF < 0.2.

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

Read Data


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