SNV:16-84145453-C-G (GRCh38)
- gnomAD v4.1.0
- 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
| Exomes | Genomes | Total | |
|---|---|---|---|
| Filters | Pass | Pass | Discrepant frequencies |
| Allele Count | 5 | 6 | 11 |
| Allele Number | 1428272 | 152204 | 1580476 |
| Allele Frequency | 0.000003501 | 0.00003942 | 0.000006960 |
| Grpmax Filtering AF (95% confidence) | 0.000001340 European (non-Finnish) | 0.00002259 Admixed American | 0.000006140 Admixed American |
| Number of homozygotes | 0 | 0 | 0 |
External Resources
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Report an issue with this variantGenetic Ancestry Group Frequencies
- gnomAD
- HGDP
- 1KG
- Local Ancestry
| 2 | 54062 | 0 | 0.00003699 | ||
| 1 | 61292 | 0 | 0.00001632 | ||
| 8 | 1163862 | 0 | 0.000006874 | ||
| 0 | 74614 | 0 | 0.000 | ||
| 0 | 28804 | 0 | 0.000 | ||
| 0 | 43722 | 0 | 0.000 | ||
| 0 | 61028 | 0 | 0.000 | ||
| 0 | 6018 | 0 | 0.000 | ||
| 0 | 912 | 0 | 0.000 | ||
| 0 | 86162 | 0 | 0.000 | ||
| XX | 5 | 799072 | 0 | 0.000006257 | |
| XY | 6 | 781404 | 0 | 0.000007678 | |
| Total | 11 | 1580476 | 0 | 0.000006960 | |
Related Variants
Other Alternate Alleles
This variant is multiallelic. Other alternate alleles are:
Liftover
The following GRCh37 variant lifts over to this variant:
- 16-84179058-C-G
View variant in gnomAD v2.1.1
Nearby Variants
Ensembl Variant Effect Predictor
This variant falls on 4 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
DNAAF1
- ENST00000378553.10MANE Select transcript for DNAAF1
- HGVSp
- p.Pro5Ala
- Domains
- mobidb (MobiDB_lite)
- ENST00000563093.5
- HGVSp
- p.Pro5Ala
- ENST00000567918.5
- HGVSp
- p.Pro5Ala
- ENST00000378553.10
non coding transcript exon
DNAAF1
- ENST00000570298.5
- HGVSc
- n.167C>G
- ENST00000570298.5
In Silico Predictors
- CADD: 3.57
- REVEL: 0.0530
- SpliceAI: 0.00
- Pangolin: 0.00
- phyloP: 0.492
- PolyPhen (max): 0.00300
Genomic Constraint of Surrounding 1kb Region
Genomic constraint values displayed are for the region: 16-84145000-84146000
Read more about this constraint.
| Expected | Observed | Constraint |
|---|---|---|
| 355.2 | 405 | Z = -2.64 o/e = 1.14 |
View the genomic constraint values for the 40kb region surrounding this variant: 16-84125453-84165453
ClinVar
- ClinVar Variation ID
- 2605794
- Conditions
- Primary ciliary dyskinesia
- Germline classification
- Conflicting classifications of pathogenicity
- Review status
- criteria provided, conflicting classifications (1 star)
- Last evaluated
- August 14, 2023
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
Site Quality Metrics
- Metric distribution
- All metric values
- Exome
- Genome
Value: 6.485e+3 (exome samples), 4.700e+3 (genome samples)
Site quality approximation for all variants with 0 <= AF < 0.00005.
Note: These are site-level quality metrics, they may be unpredictable for multi-allelic sites.
Read Data
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