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SNV:6-29627222-C-T (GRCh37)

Dataset
ExomesGenomesTotal
Filters PassPass
Allele Count2393242
Allele Number24657631382277958
Allele Frequency0.00096930.000095600.0008706
Grpmax Filtering AF
(95% confidence)		0.006894
South Asian
—
Number of homozygotes202
Mean depth of coverage90.531.0

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Genetic Ancestry Group Frequencies

2343037820.007703
6715600.0008385
12381800.00004199
112609400.000007931
03531400.000
01026400.000
01983400.000
02510000.000
XX7712609600.0006106
XY16515186220.001087
Total24227795820.0008706

* Allele frequencies for some sub-continental populations were not computed for genome samples.

Include:

Related Variants

Other Alternate Alleles

This variant is multiallelic. Other alternate alleles are:

Liftover

This variant lifts over to the following GRCh38 variant:

Variant Co-occurrence

Check if this variant occurs on the same haplotype as another variant.

Nearby Variants

View variants located within 20 bases of this variant.

Ensembl Variant Effect Predictor

This variant falls on 20 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. MOG

      1. ENST00000376898.3
        Ensembl canonical transcript for MOG
        HGVSp
        p.Pro72Leu
        Domains
        Polyphen
        probably_damaging
        SIFT
        tolerated
      2. ENST00000376891.4
        HGVSp
        p.Pro72Leu
        Domains
        Polyphen
        probably_damaging
        SIFT
        tolerated
      3. ENST00000376894.4
        HGVSp
        p.Pro72Leu
        Domains
        Polyphen
        probably_damaging
        SIFT
        deleterious

  2. intron

    1. MOG

      1. ENST00000376888.2
        HGVSc
        c.88+2148C>T
      2. ENST00000483013.1
        HGVSc
        c.88+2148C>T
      3. ENST00000490427.1
        HGVSc
        c.88+2148C>T

  3. 3' UTR

    1. MOG

      1. ENST00000376903.4
        HGVSc
        c.*72C>T

  4. non coding transcript exon

    1. MOG

      1. ENST00000469353.1
        HGVSc
        n.295C>T
      2. ENST00000469603.1
        HGVSc
        n.209C>T
      3. ENST00000476244.1
        HGVSc
        n.209C>T

ClinVar

ClinVar Variation ID
3250856
Conditions
not provided
Germline classification
Likely benign
Review status
criteria provided, single submitter (1 star)
Last evaluated
June 1, 2024

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> 80Age05101520253035404550556065Variant carriers02.00K4.00K6.00K8.00K10.0K12.0K14.0KAll individuals

Genotype Quality Metrics

  • Exome
  • Genome
  • Variant carriers
  • All individuals
0-510-1520-2530-3540-4550-5560-6570-7580-8590-95> 100Genotype quality020406080100120140160180200220240Variant carriers010.0K20.0K30.0K40.0K50.0K60.0K70.0K80.0K90.0K100K110K120KAll individuals

Note: This plot may include low-quality genotypes that were excluded from allele counts in the tables above.

Site Quality Metrics

  • Exome
  • Genome
1e11e1.51e21e2.51e31e3.51e41e4.51e51e5.51e61e6.51e71e7.51e81e8.51e91e9.51e10SiteQuality05.00K10.0K15.0K20.0K25.0K30.0K35.0K40.0KExome variants0500K1.00M1.50M2.00M2.50M3.00M3.50M4.00M4.50M5.00M5.50MGenome variants1.740e+51.343e+7

Value: 1.343e+7 (exome samples), 1.740e+5 (genome samples)

This is the site quality distribution for all exome variants with 0.0005 <= AF < 0.001 and all genome variants with 0.00005 <= AF < 0.0001.

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

Read Data


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