Resource
| Id | hg38/scores/AVI |
|---|---|
| Type | allele_score |
| Version | 0 |
| Summary |
AVI (AlphaGenome Variant Impact) score predicts the potential impact of a SNP
|
| Description |
AVI (AlphaGenome Variant Impact) score predicts the potential impact of single nucleotide variants by integrating diverse annotations into a single metric. Unlike tools limited to specific information types or variant categories, AVI combines naturally selected and simulated mutations for a comprehensive assessment. AVI scores correlate with allelic diversity, coding and non-coding pathogenicity, and regulatory effects, effectively prioritizing causal variants across varied functional categories and genetic architectures. Additionally, AVI scores for complex trait-associated variants from GWAS correlate with study sample size, making it a valuable tool in research and clinical settings. |
| Labels |
|
Scores (2)
| ID | Type | Default annotation | Description | Histogram | Range |
|---|---|---|---|---|---|
| avi_raw | float |
avi_raw |
AVI raw score
Small values desc: less damaging
Large values desc: more damaging
|
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[-1.27, 6.08] |
| avi_phred | float |
avi_phred |
AVI phred-like score.
Small values desc: less damaging
Large values desc: more damaging
|
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[0, 89.5] |
Alleles
| Chromosome | Alleles | substitution % | insertion % | deletion % | complex % | other % |
|---|---|---|---|---|---|---|
| all chromosomes | 8812917339 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr1 | 691443036 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr2 | 721644684 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr3 | 594300405 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr4 | 569258001 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr5 | 543796134 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr6 | 510235566 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr7 | 476910393 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr8 | 434304408 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr9 | 365371650 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr10 | 399788886 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr11 | 403601226 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr12 | 399413448 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr13 | 293949375 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr14 | 271704447 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr15 | 253923975 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr16 | 245417829 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr17 | 248760612 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr18 | 240268815 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr19 | 175322274 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr20 | 191832771 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr21 | 120265857 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chr22 | 117479331 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chrX | 464679087 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
| chrY | 79245129 | 100.00% | 0.00% | 0.00% | 0.00% | 0.00% |
Substitution matrix
| ref → alt | A | C | G | T |
|---|---|---|---|---|
| A | 0 0.00% | 867148869 9.84% | 867148869 9.84% | 867148869 9.84% |
| C | 599038716 6.80% | 0 0.00% | 599038716 6.80% | 599038716 6.80% |
| G | 601512956 6.83% | 601512956 6.83% | 0 0.00% | 601512956 6.83% |
| T | 869938572 9.87% | 869938572 9.87% | 869938572 9.87% | 0 0.00% |
Indel lengths
| alleles | min | max | mean | median | |
|---|---|---|---|---|---|
| insertions | 0 | ||||
| deletions | 0 |
no insertions
no deletions
Complex alleles
no complex alleles
Files
| Filename | Size | md5 |
|---|---|---|
| alphagenome_variant_impact_score_snvs.tsv.gz | 82.39 GB | d7753d6a3aba87a0b90ecb9df3b789e3 |
| alphagenome_variant_impact_score_snvs.tsv.gz.tbi | 3.02 MB | 911ee04b6e8fba1882465221b5a14f2c |
| genomic_resource.yaml | 1.92 KB | 5771656865fa7ea649f55e51d3916010 |
| statistics/ |

