ASPHD1
Chr 16aspartate beta-hydroxylase domain containing 1
Predicted to enable dioxygenase activity. Predicted to be located in membrane. [provided by Alliance of Genome Resources, Jul 2025]
ResearchGenerating clinical summary…
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.00LOEUF
pLI 0.002
Z-score 1.58
OE 0.50 (0.28–1.00)
Typical tolerance to LoF variation
Missense Constraint?
1.29Z-score
OE missense 0.77 (0.68–0.86)
184 obs / 240.5 exp
Mild missense constraint
Observed / Expected Ratios?
LoF OE?0.50 (0.28–1.00)
0≤0.351.4
Missense OE?0.77 (0.68–0.86)
0≤0.61.4
Synonymous OE?0.82
0≤1.21.6
LoF obs/exp: 6 / 11.9Missense obs/exp: 184 / 240.5Syn Z: 1.44
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ASPHD1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools