Skin lipoma

Summary

Skin lipoma (MONDO:0000964) is a disease with 4 GWAS associations across 5 studies. A subtype of lipoma — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 4

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	skin lipoma
Mondo ID	MONDO:0000964
DOID	DOID:10188
NCIT	C4616
SNOMED CT	255187008
UMLS	C0347394
MedGen	91128
Anatomy (UBERON)	UBERON:0000014
Is cancer (heuristic)	no

Also known as: cutaneous lipoma · cutaneous lipomatous tumour · lipoma of face · lipoma of skin · lipoma of the skin · lipoma of zone of skin · skin lipoma · zone of skin lipoma

Data availability: 4 GWAS associations (5 studies).

Disease family

This is a subtype of lipoma. Genetic, therapeutic, and trial evidence is largely curated at the broader-term level — see the parent page for the associated-gene cohort and molecular evidence.

Classification path: disease › human disease › disease by body system or component › musculoskeletal system disorder › musculoskeletal system benign neoplasm › benign connective and soft tissue neoplasm › benign lipomatous neoplasm › lipoma › skin lipoma

Related subtypes (29): endobronchial lipoma, spindle cell lipoma, esophageal lipoma, liver lipoma, pleomorphic lipoma, conventional lipoma, kidney lipoma, pleural lipoma, breast lipoma, chest wall lipoma, gallbladder lipoma, external ear lipoma, axillary lipoma, paratesticular lipoma, chondroid lipoma, thymus lipoma, heart lipoma, central nervous system lipoma, colorectal lipoma, internal auditory canal lipoma, infiltrating lipoma, tendon sheath lipoma, lumbosacral lipoma, angiolipoma, familial multiple lipomatosis, hibernoma, lipoma of stomach, lipoma of face, tonsillar lipoma

Genetics & variants

GWAS landscape

4 GWAS associations across 5 studies. Top hits map to 1 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs1894692	5e-25	SLC19A2 - F5	G	0.48
rs35446936	1e-13	ACTRT3	G	0.15

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475619	Verma A	2024	7,395	433,684	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435661	Zhou W	2018	4,611	401,613	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.
GCST90477262	Verma A	2024	2,946	115,629	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479840	Verma A	2024	2,946	115,629	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477261	Verma A	2024	1,123	57,518	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

Tier	Variants
Tier 1: coding	0
Tier 2: splice/UTR	0
Tier 3: regulatory	0
Tier 4: intronic/intergenic	2

MAF distribution

Bucket	Variants
common (>=0.05)	1
low_freq (0.01-0.05)	1
rare (<0.01)	0
unknown	0

Functional consequences

Consequence	Count
non_coding_transcript_exon_variant	1
intron_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs1894692	1	169498416	G>A	0.036	non_coding_transcript_exon_variant	SLC19A2 - F5	5e-25	Tier 4: intronic/intergenic
rs35446936	3	169768720	G>A,C	0.246	intron_variant	ACTRT3	1e-13	Tier 4: intronic/intergenic

Genes & proteins

No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).

Function

No pathway enrichment — requires an associated-gene cohort.

Therapeutics

No druggable-target or therapeutic data for this disease’s cohort.

Clinical trials & evidence

Clinical trials

Clinical trials: 0.