SNED1

Chr 2

sushi, nidogen and EGF like domains 1

Also known as: IRE-BP1, SST3, Snep

NCBI Gene: 25992ENSG00000162804UniProt: Q8TER0

Predicted to enable Notch binding activity. Predicted to be involved in cell-matrix adhesion. Located in extracellular matrix. [provided by Alliance of Genome Resources, Jul 2025]

Research Assistant →
0
Active trials
1
Pubs (1 yr)
0
P/LP submissions
—
P/LP missense
0.33
LOEUF· LoF intol.
—
Mechanism
Clinical Summary— SNED1
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.66) — some intolerance to loss-of-function variants.
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint
0.33LOEUF
pLI 0.662
Z-score 6.06
OE 0.22 (0.14–0.33)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
3.13Z-score
OE missense 0.70 (0.66–0.75)
610 obs / 870.0 exp
Constrained

Highly missense-constrained (top ~0.1%)

Observed / Expected Ratios
LoF OE0.22 (0.14–0.33)
0≤0.351.4
Missense OE0.70 (0.66–0.75)
0≤0.61.4
Synonymous OE0.91
0≤1.21.6
LoF obs/exp: 15 / 69.5Missense obs/exp: 610 / 870.0Syn Z: 1.37

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

SNED1 · 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

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients