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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-2996029960
Allele Number-152142152142
Allele Frequency-0.19690.1969
Grpmax Filtering AF
(95% confidence)
-0.3227
East Asian
0.3227
East Asian
Number of homozygotes-30573057

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.

173351603060.3359
92294150.3129
7843470800.2259
4772114670.2256
3294152783640.2156
138666799213960.2039
174912190.1908
1911105901780.1805
7107415126030.1712
5224820290.1083
XX154557776015180.1988
XY145057438215390.1950
Total2996015214230570.1969
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 2 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. LEXM

      1. ENST00000371273.4
        MANE Select transcript for LEXM
        HGVSc
        c.1184+12208A>G
      2. ENST00000358193.7
        HGVSc
        c.1184+12208A>G

In Silico Predictors

  • CADD: 12.0
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: 0.920
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: 1-54829000-54830000

Read more about this constraint.

ExpectedObservedConstraint
130.9115Z = 1.39
o/e = 0.88
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 1-54809330-54849330

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals

Site Quality Metrics

  • Exome
  • Genome

Value: 2.932e+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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