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SNV:3-12616478-C-T (GRCh37)
Dataset
- gnomAD v2.1.1
- GRCh38
- gnomAD v4.1.0807,162 samples
- gnomAD v4.1.0 (non-UKB)314,392 samples
- gnomAD v3.1.276,156 samples
- gnomAD v3.1.2 (non-cancer)74,023 samples
- gnomAD v3.1.2 (non-neuro)67,442 samples
- gnomAD v3.1.2 (non-v2)57,344 samples
- gnomAD v3.1.2 (non-TOPMed)40,433 samples
- gnomAD v3.1.2 (controls/biobanks)16,465 samples
- GRCh37
- gnomAD v2.1.1141,456 samples
- gnomAD v2.1.1 (non-TOPMed)135,743 samples
- gnomAD v2.1.1 (non-cancer)134,187 samples
- gnomAD v2.1.1 (non-neuro)114,704 samples
- gnomAD v2.1.1 (controls)60,146 samples
- ExAC60,706 samples
| Exomes | Genomes | Total | |
|---|---|---|---|
| Filters | Pass | No variant | |
| Allele Count | 3 | 3 | |
| Allele Number | 251386 | 251386 | |
| Allele Frequency | 0.00001193 | 0.00001193 | |
| Grpmax Filtering AF (95% confidence) | 0.000002920 European (non-Finnish) | ||
| Number of homozygotes | 0 | 0 | |
| Mean depth of coverage | 61.5 | 33.4 |
External Resources
Feedback
Report an issue with this variantGenetic Ancestry Group Frequencies
| 1 | 34580 | 0 | 0.00002892 | ||
| 2 | 113684 | 0 | 0.00001759 | ||
| 0 | 16256 | 0 | 0.000 | ||
| 0 | 10076 | 0 | 0.000 | ||
| 0 | 18394 | 0 | 0.000 | ||
| 0 | 21646 | 0 | 0.000 | ||
| 0 | 30612 | 0 | 0.000 | ||
| 0 | 6138 | 0 | 0.000 | ||
| XX | 2 | 115508 | 0 | 0.00001731 | |
| XY | 1 | 135878 | 0 | 0.000007360 | |
| Total | 3 | 251386 | 0 | 0.00001193 | |
Include:
Related Variants
Liftover
This variant lifts over to the following GRCh38 variant:
- 3-12574979-C-T
View variant in gnomAD v4.1.0
Variant Co-occurrence
Check if this variant occurs on the same haplotype as another variant.
Nearby Variants
Ensembl Variant Effect Predictor
This variant falls on 3 transcripts in 1 gene.
Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.
missense
MKRN2
- ENST00000170447.7Ensembl canonical transcript for MKRN2
- HGVSp
- p.Ala277Val
- Domains
- Polyphen
- benign
- SIFT
- deleterious
- ENST00000411987.1
- HGVSp
- p.Ala234Val
- Domains
- Polyphen
- benign
- SIFT
- deleterious
- ENST00000448482.1
- HGVSp
- p.Ala275Val
- Domains
- Polyphen
- benign
- SIFT
- deleterious
- ENST00000170447.7
ClinVar
- ClinVar Variation ID
- 3396463
- Conditions
- not specified
- Germline classification
- Uncertain significance
- Review status
- criteria provided, single submitter (1 star)
- Last evaluated
- November 9, 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
Genotype Quality Metrics
- Genotype quality
- Depth
- Allele balance for heterozygotes
- Exome
- Genome
- Variant carriers
- All individuals
Note: This plot may include low-quality genotypes that were excluded from allele counts in the tables above.
Site Quality Metrics
- Metric distribution
- All metric values
- Exome
- Genome
Value: 2.037e+3 (exome samples)
This is the site quality distribution for all exome variants with 0 <= AF < 0.00005.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.
Read Data
Always load read data