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SNV:17-48593342-G-A (GRCh38)
Dataset
- gnomAD v3.1.2
- 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
| Genomes | |
|---|---|
| Filters | Pass |
| Allele Count | 1 |
| Allele Number | 152250 |
| Allele Frequency | 0.000006568 |
| Grpmax Filtering AF (95% confidence) | — |
| Number of homozygotes | 0 |
| Mean depth of coverage | 30.6 |
External Resources
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Report an issue with this variantGenetic Ancestry Group Frequencies
- gnomAD
- HGDP
- 1KG
- Local Ancestry
| 1 | 68052 | 0 | 0.00001469 | ||
| 0 | 10622 | 0 | 0.000 | ||
| 0 | 15284 | 0 | 0.000 | ||
| 0 | 912 | 0 | 0.000 | ||
| 0 | 5202 | 0 | 0.000 | ||
| 0 | 316 | 0 | 0.000 | ||
| 0 | 41462 | 0 | 0.000 | ||
| 0 | 4838 | 0 | 0.000 | ||
| 0 | 3472 | 0 | 0.000 | ||
| 0 | 2090 | 0 | 0.000 | ||
| XX | 0 | 77862 | 0 | 0.000 | |
| XY | 1 | 74388 | 0 | 0.00001344 | |
| Total | 1 | 152250 | 0 | 0.000006568 | |
Include:
Related Variants
Nearby Variants
Ensembl Variant Effect Predictor
This variant falls on 10 transcripts in 3 genes.
Note The gene symbols shown below are provided by VEP and may differ from the symbol shown on gene pages.
missense
HOXB5
- ENST00000239151.5Different version of MANE Select transcript for HOXB5
- HGVSp
- p.Ala114Val
- Domains
- mobidb (MobiDB_lite)
- PTHR45659 (PANTHER)
- Polyphen
- benign
- SIFT
- tolerated
- ENST00000239151.5
intron
HOXB-AS3
- ENST00000429755.8
- HGVSc
- n.73+978G>A
- ENST00000465846.6
- HGVSc
- n.78-7105G>A
- ENST00000467155.6
- HGVSc
- n.113+2753G>A
- ENST00000429755.8
HOXB3
- ENST00000552000.2
- HGVSc
- n.433+11138C>T
- ENST00000552000.2
In Silico Predictors
Transcript-specific predictors SIFT and Polyphen are listed with Variant Effect Predictor annotations.
- REVEL: 0.186
- CADD: 23.5
- SpliceAI: 0.0200 (acceptor_gain)
- PrimateAI: 0.545
Genomic Constraint of Surrounding 1kb Region
This variant does not have non coding constraint data for the surrounding region.ClinVar
- ClinVar Variation ID
- 3284660
- Conditions
- not specified
- Germline classification
- Uncertain significance
- Review status
- criteria provided, single submitter (1 star)
- Last evaluated
- March 25, 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
Site Quality Metrics
- Metric distribution
- All metric values
- Exome
- Genome
Value: 2.228e+3 (genome samples)
Site quality approximation for all singleton variants.
Read Data
Always load read data