gnomAD browser
Help us continue to improve gnomAD by taking 5 minutes to fill out our user survey.

SNV:17-20451816-G-A (GRCh38)

Dataset
ExomesGenomesTotal
Filters AS VSQRAS VSQR
Allele Count729
Allele Number13560381166421472680
Allele Frequency0.0000051620.000017150.000006111
Grpmax Filtering AF
(95% confidence)		0.000002830
European (non-Finnish)
0.000006790
European (non-Finnish)
0.000003930
European (non-Finnish)
Number of homozygotes101

External Resources

Feedback

Report an issue with this variant

Genetic Ancestry Group Frequencies

9107708610.000008356
07009600.000
05253200.000
02528000.000
04372800.000
05413400.000
0504000.000
061200.000
08750600.000
05666600.000
XX474232600.000005388
XY573035410.000006846
Total9147268010.000006111
Include:

Related Variants

Nearby Variants

View variants located within 20 bases of this variant.

Ensembl Variant Effect Predictor

This variant falls on 4 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. missense

    1. LGALS9B

      1. ENST00000423676.8
        MANE Select transcript for LGALS9B
        HGVSp
        p.Thr247Ile
        Domains
      2. ENST00000324290.5
        HGVSp
        p.Thr246Ile
        Domains

  2. 3' UTR

    1. LGALS9B

      1. ENST00000578481.5
        HGVSc
        c.*540C>T

  3. non coding transcript exon

    1. LGALS9B

      1. ENST00000578724.1
        HGVSc
        n.356C>T

In Silico Predictors

  • CADD: 1.82
  • REVEL: 0.0190
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: -0.758
  • PolyPhen (max): 0.0650
Note For more detailed and up to date SpliceAI and Pangolin predictions, please visit our SpliceAI Lookup browser

Genomic Constraint of Surrounding 1kb Region

This variant does not have non coding constraint data for the surrounding region.

ClinVar

ClinVar Variation ID
2527559
Conditions
not specified
Germline classification
Uncertain significance
Review status
criteria provided, single submitter (1 star)
Last evaluated
March 21, 2023

or find more information on the ClinVar website. Data displayed here is from ClinVar's February 1, 2025 release.

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age01Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100K110KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality01234567Variant carriers050.0K100K150K200K250K300KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality02.00M4.00M6.00M8.00M10.0M12.0M14.0MExome variants02.00M4.00M6.00M8.00M10.0M12.0M14.0M16.0M18.0M20.0M22.0M24.0M26.0MGenome variants1.926e+37.359e+3

Value: 7.359e+3 (exome samples), 1.926e+3 (genome samples)

Site quality approximation for all doubleton variants.

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

Read Data


Always load read data