ENDOD1

Chr 11

endonuclease domain containing 1

NCBI Gene: 23052 ENSG00000149218 UniProt: O94919

Predicted to enable several functions, including endonuclease activity; metal ion binding activity; and nucleic acid binding activity. Predicted to be involved in innate immune response. Located in extracellular exosome and membrane. [provided by Alliance of Genome Resources, Jun 2026]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.65

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.65LOEUF

pLI 0.000

Z-score -0.28

OE 1.08 (0.72–1.65)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.01Z-score

OE missense 1.00 (0.90–1.11)

259 obs / 259.5 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?1.08 (0.72–1.65)

0≤0.351.4

Missense OE?1.00 (0.90–1.11)

0≤0.61.4

Synonymous OE?1.05

0≤1.21.6

LoF obs/exp: 15 / 13.9Missense obs/exp: 259 / 259.5Syn Z: -0.41

Background carrier burden — how many people carry a rare variant somewhere in ENDOD1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 81

695 rare PASS variants

Rare truncating (LoF)

1 in 1,200

89 rare PASS variants

Rare synonymous (reference)

1 in 280

272 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ENDOD1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 110	1 in 1,200
South Asian	~43k	1 in 75	1 in 1,000
Remaining (unassigned)	~30k	1 in 74	1 in 400
European (Finnish)	~27k	1 in 480	1 in 3,000
Admixed American	~22k	1 in 74	1 in 1,800
African / African American	~21k	1 in 85	1 in 1,400
East Asian	~20k	1 in 84	1 in 1,300
Ashkenazi Jewish	~13k	1 in 710	≈ 1 in 6,100
Middle Eastern	~2,884	1 in 84	≈ 1 in 2,900

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 1 of 2 coding exons well covered in gnomAD exomes; exon 1 marginal. Genomes: all 2.? see exons ↓