SNV:11-44069846-C-T (GRCh37)
- 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 | Pass | |
| Allele Count | 20 | 1 | 21 |
| Allele Number | 249318 | 31366 | 280684 |
| Allele Frequency | 0.00008022 | 0.00003188 | 0.00007482 |
| Grpmax Filtering AF (95% confidence) | 0.00006047 European (non-Finnish) | — | |
| Number of homozygotes | 0 | 0 | 0 |
| Mean depth of coverage | 96.6 | 29.3 |
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Report an issue with this variantGenetic Ancestry Group Frequencies
| 1 | 7144 | 0 | 0.0001400 | ||
| 4 | 35376 | 0 | 0.0001131 | ||
| 12 | 128466 | 0 | 0.00009341 | ||
| 2 | 24180 | 0 | 0.00008271 | ||
| 1 | 19534 | 0 | 0.00005119 | ||
| 1 | 30602 | 0 | 0.00003268 | ||
| 0 | 10350 | 0 | 0.000 | ||
| 0 | 25032 | 0 | 0.000 | ||
| XX | 12 | 127974 | 0 | 0.00009377 | |
| XY | 9 | 152710 | 0 | 0.00005894 | |
| Total | 21 | 280684 | 0 | 0.00007482 | |
* Allele frequencies for some sub-continental populations were not computed for genome samples.
Related Variants
Liftover
This variant lifts over to the following GRCh38 variant:
- 11-44048296-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 2 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
ACCSL
- ENST00000378832.1Ensembl canonical transcript for ACCSL
- HGVSp
- p.Ala87Val
- Polyphen
- benign
- SIFT
- tolerated
- ENST00000527145.1
- HGVSp
- p.Ala87Val
- Polyphen
- benign
- SIFT
- tolerated
- ENST00000378832.1
ClinVar
- ClinVar Variation ID
- 3261437
- Conditions
- not specified
- Germline classification
- Uncertain significance
- Review status
- criteria provided, single submitter (1 star)
- Last evaluated
- March 19, 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: 6.093e+4 (exome samples), 4.065e+2 (genome samples)
This is the site quality distribution for all exome variants with 0.00005 <= AF < 0.0001 and all singleton genome variants.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.
Read Data
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