FOCAD
Chr 9ARfocadhesin
Also known as: KIAA1797, SCOLIV
Primary Disease Associations & Inheritance
Liver disease, severe congenitalMIM #619991
AR
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.88LOEUF
pLI 0.000
Z-score 2.59
OE 0.72 (0.59–0.88)
Typical tolerance to LoF variation
Missense Constraint?
-2.93Z-score
OE missense 1.27 (1.21–1.33)
1182 obs / 930.8 exp
Tolerant to missense variation
Observed / Expected Ratios?
LoF OE?0.72 (0.59–0.88)
0≤0.351.4
Missense OE?1.27 (1.21–1.33)
0≤0.61.4
Synonymous OE?1.18
0≤1.21.6
LoF obs/exp: 72 / 99.9Missense obs/exp: 1182 / 930.8Syn Z: -2.61
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FOCAD · 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