ARMS2

Chr 10

age-related maculopathy susceptibility 2

ENSG00000254636UniProt: P0C7Q2OMIM: 611313

OMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Macular degeneration, age-related, 8}MIM #613778
5
Active trials
—
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.94
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.94LOEUF
pLI 0.001
Z-score -0.95
OE 1.66 (0.68–1.94)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.68Z-score
OE missense 0.75 (0.58–0.96)
42 obs / 56.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?1.66 (0.68–1.94)
0≤0.351.4
Missense OE?0.75 (0.58–0.96)
0≤0.61.4
Synonymous OE?0.89
0≤1.21.6
LoF obs/exp: 4 / 2.4Missense obs/exp: 42 / 56.3Syn Z: 0.40

ClinVar

No ClinVar data available.

Protein Context — Lollipop Plot

ARMS2 · 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

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