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SNV:6-74440296-A-G (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 | 247208 | 247208 | |
| Allele Frequency | 0.00001214 | 0.00001214 | |
| Grpmax Filtering AF (95% confidence) | 0.000007160 European (non-Finnish) | ||
| Number of homozygotes | 0 | 0 | |
| Mean depth of coverage | 33.6 | 34.3 |
External Resources
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Report an issue with this variantGenetic Ancestry Group Frequencies
| 3 | 111422 | 0 | 0.00002692 | ||
| 0 | 34258 | 0 | 0.000 | ||
| 0 | 16010 | 0 | 0.000 | ||
| 0 | 9932 | 0 | 0.000 | ||
| 0 | 18164 | 0 | 0.000 | ||
| 0 | 21058 | 0 | 0.000 | ||
| 0 | 30300 | 0 | 0.000 | ||
| 0 | 6064 | 0 | 0.000 | ||
| XX | 3 | 113528 | 0 | 0.00002643 | |
| XY | 0 | 133680 | 0 | 0.000 | |
| Total | 3 | 247208 | 0 | 0.00001214 | |
Include:
Related Variants
Liftover
This variant lifts over to the following GRCh38 variant:
- 6-73730573-A-G
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
CD109
- ENST00000287097.5Ensembl canonical transcript for CD109
- HGVSp
- p.Lys169Arg
- Domains
- PF01835 (Pfam)
- PTHR11412 (hmmpanther)
- Polyphen
- benign
- SIFT
- tolerated
- ENST00000437994.2
- HGVSp
- p.Lys169Arg
- Domains
- PF01835 (Pfam)
- PTHR11412 (hmmpanther)
- Polyphen
- benign
- SIFT
- tolerated
- ENST00000287097.5
intron
CD109
- ENST00000422508.2
- HGVSc
- c.277-5810A>G
- ENST00000422508.2
ClinVar
- ClinVar Variation ID
- 3487768
- Conditions
- not specified
- Germline classification
- Uncertain significance
- Review status
- criteria provided, single submitter (1 star)
- Last evaluated
- October 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: 2.378e+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