C10ORF55

Chr 10AD

chromosome 10 putative open reading frame 55

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Alzheimer disease, late-onset, susceptibility to}MIM #104300
AD
Quebec platelet disorderMIM #601709
AD
0
Active trials
Pubs (1 yr)
P/LP submissions
P/LP missense
1.94
LOEUF
Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.94LOEUF
pLI 0.014
Z-score -0.80
OE 1.83 (0.501.94)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.42Z-score
OE missense 0.87 (0.721.06)
74 obs / 85.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.83 (0.501.94)
00.351.4
Missense OE?0.87 (0.721.06)
00.61.4
Synonymous OE?0.70
01.21.6
LoF obs/exp: 2 / 1.1Missense obs/exp: 74 / 85.0Syn Z: 1.38

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

C10ORF55 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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