Curated Disease & Regulatory Hotspots
Select any preset locus or inspect nucleotide positions. Click directly on any nucleotide or substitution matrix cell to compute biological consequence deltas.
Locus: chr11:5,227,000–5,227,094 (HBB)
Mode: Coding (Exon 1)
Focus Pos: 5227069 (rel +69)
Codon Frames & Genomic Ruler (1 bp step)
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Single-Nucleotide Substitution Matrix (3-Base Alternatives)
AlphaGenome Delta Impact (Δ 0.00 = Benign, Δ 1.00 = Lethal/Pathogenic)
Legend:
Benign / Synonymous (<0.35)
Moderate / Likely Pathogenic (0.35 - 0.70)
High Impact / Pathogenic (≥0.70)
Reference Base
Current SNV Annotation Ledger
Active substitutions evaluated for focal position (3 total variants in current cohort).
| Variant ID | Alt | HGVS Consequence | Delta Impact | Clinical Tier | Type |
|---|
Inject Custom DNA Sequence / Window
Ready for FASTA input