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ExomesGenomesTotal
Filters PassPass
Allele Count739490109885849375
Allele Number8854161519201037336
Allele Frequency0.83520.72330.8188
Grpmax Filtering AF
(95% confidence)
0.8791
South Asian
0.8532
South Asian
0.8786
South Asian
Number of homozygotes31171442315354029

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.

203922284691000.8926
6077468712269320.8845
2809321612320.8734
5938206932502545650.8566
7809123330.8553
3483342432144030.8209
3768846502153180.8105
4314156910162730.7581
281333971899660.7083
270056283859070.4298
XX4144225086021721740.8148
XY4349535287341818550.8226
Total84937510373363540290.8188
Include:

Related Variants

Other Alternate Alleles

This variant is multiallelic. Other alternate alleles are:

Liftover

The following GRCh37 variant lifts over to this variant:

Variant Effect Predictor

This variant falls on 6 transcripts in 2 genes.

Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.

  1. intron

    1. SLCO1B3

      1. ENST00000381545.8
        MANE Select transcript for SLCO1B3
        HGVSc
        c.227-77A>G
      2. ENST00000261196.6
        HGVSc
        c.227-77A>G
      3. ENST00000540853.5
        HGVSc
        c.227-77A>G
    2. SLCO1B3-SLCO1B7

      1. ENST00000540229.1
        Ensembl canonical transcript for SLCO1B3-SLCO1B7
        HGVSc
        c.227-77A>G
      2. ENST00000381541.7
        HGVSc
        c.227-77A>G

In Silico Predictors

  • CADD: 5.74
  • SpliceAI: 0.00
  • Pangolin: 0.00
  • phyloP: 0.0190
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: 12-20858000-20859000

Read more about this constraint.

ExpectedObservedConstraint
73.490Z = -1.93
o/e = 1.23
Z Score not constrainedconstrained2.184.0

View the genomic constraint values for the 40kb region surrounding this variant: 12-20838362-20878362

ClinVar

ClinVar Variation ID
1239811
Conditions
not provided
Germline classification
Benign
Review status
criteria provided, multiple submitters, no conflicts (2 stars)
Last evaluated
November 12, 2018

or find more information on the ClinVar website. Data displayed here is from ClinVar's December 30, 2024 release.

Age Distribution

  • Exome
  • Genome
  • Variant carriers
  • All individuals
< 3030-3535-4040-4545-5050-5555-6060-6565-7070-7575-80> 80Age05.00K10.0K15.0K20.0K25.0K30.0K35.0K40.0K45.0K50.0KVariant 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 quality020.0K40.0K60.0K80.0K100K120K140K160KVariant carriers020.0K40.0K60.0K80.0K100K120K140K160KAll individuals

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality02.00K4.00K6.00K8.00K10.0K12.0K14.0K16.0KExome variants0100K200K300K400K500K600K700K800K900K1.00M1.10M1.20MGenome variants1.238e+83.750e+8

Value: 3.750e+8 (exome samples), 1.238e+8 (genome samples)

Site quality approximation for all variants with AF >= 0.5.

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

Read Data


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