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ExomesGenomesTotal
Filters No dataPassNot in exomes
Allele Count-186186
Allele Number-152256152256
Allele Frequency-0.0012220.001222
Grpmax Filtering AF
(95% confidence)
-0.02799
South Asian
0.02799
South Asian
Number of homozygotes-33

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Genetic Ancestry Group Frequencies

155482630.03212
13518000.002510
3210800.001423
51529600.0003269
44155600.00009626
66800800.00008822
0347000.000
01060600.000
029400.000
091200.000
XX707780210.0008997
XY1167445420.001558
Total18615225630.001222
Include:

Related Variants

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 1 transcript 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. LINC02865

      1. ENST00000417800.1
        Ensembl canonical transcript for LINC02865
        HGVSc
        n.102-12550C>T

In Silico Predictors

  • CADD: 1.84
  • Pangolin: 0.00
  • phyloP: -0.118
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.

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age02468101214161820222426Variant 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 quality020406080100120140160Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0K18.0K20.0K22.0K24.0KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality0200K400K600K800K1.00M1.20M1.40M1.60M1.80M2.00M2.20M2.40M2.60M2.80MGenome variants1.625e+5

Value: 1.625e+5 (genome samples)

Site quality approximation for all variants with 0.001 <= AF < 0.002.

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

Read Data


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