Non-neoplastic nevus

Summary

Non-neoplastic nevus (MONDO:0022749) is a disease with 4 GWAS associations across 5 studies. A subtype of skin disorder — 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	non-neoplastic nevus
Mondo ID	MONDO:0022749
NCIT	C3937
SNOMED CT	195381005
UMLS	C0265027
MedGen	78119
Is cancer (heuristic)	no

Also known as: non-neoplastic nevus

Data availability: 4 GWAS associations (5 studies).

Disease family

This is a subtype of skin disorder. 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 › integumentary system disorder › skin disorder › non-neoplastic nevus

Related subtypes (71): dermatitis, cutaneous mucinosis, skin neoplasm, pyoderma, chronic ulcer of skin, systemic sclerosis, sunburn, severe cutaneous adverse reaction, paronychia, Achenbach syndrome, erythema multiforme, erythematosquamous dermatosis, exanthem, facial dermatosis, hand dermatosis, keratosis, leg dermatosis, lichen disease, lipodystrophy, mongolian spot, reactive cutaneous fibrous lesion, rosacea, scalp dermatosis, sebaceous gland disorder, skin atrophy, skin sarcoidosis, sweat gland disorder, vesiculobullous skin disease, hyperglobulinemic purpura, ainhum, cheilitis glandularis, erythema palmare hereditarium, multiple benign circumferential skin creases on limbs, actinic prurigo, congenital lethal erythroderma, Parana hard-skin syndrome, Bazex-Dupre-Christol syndrome, nephrogenic systemic fibrosis, erosive pustular dermatosis of the scalp, pseudoxanthoma elasticum-like papillary dermal elastolysis, toxic dermatosis, oral erosive lichen, chronic actinic dermatitis, Jessner lymphocytic infiltration of the skin, acquired kinky hair syndrome, primary cutaneous plasmacytosis, cutaneous pseudolymphoma, corticosteroid-sensitive aseptic abscess syndrome, interstitial granulomatous dermatitis with arthritis, epidermal disease, skin pigmentation disorder, skin vascular disease, Wells syndrome, solar urticaria, pellagra, hereditary epidermal appendage anomaly, keratosis pilaris, dermis disorder, aquagenic pruritus, Boudhina Yedes Khiari syndrome, cutaneous sclerosis, pityriasis rotunda, hematohidrosis, skin disorder caused by infection, livedoid vasculopathy, prurigo nodularis, granuloma faciale, sclerema neonatorum, hereditary skin disorder, hand-foot syndrome, Nicolau syndrome

Genetics & variants

GWAS landscape

4 GWAS associations across 5 studies. Top hits map to 3 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs55797833	9e-22	CDKN2A, CDKN2B-AS1	T	0.67
rs893383508	1e-11	LINC01822 - RN7SL117P	T	2.11
rs149617956	3e-11	MITF	G	0.58

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475623	Verma A	2024	13,068	409,899	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477271	Verma A	2024	823	56,564	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90477272	Verma A	2024	610	119,171	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479845	Verma A	2024	610	119,171	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90435665	Zhou W	2018	597	400,618	Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies.

Variant details and genetic-evidence tiers

Tier distribution (top 50 variants)

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

MAF distribution

Bucket	Variants
common (>=0.05)	0
low_freq (0.01-0.05)	1
rare (<0.01)	2
unknown	0

Functional consequences

Consequence	Count
non_coding_transcript_exon_variant	1
intron_variant	1
stop_gained	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs55797833	9	21995045	T>G	0.016	non_coding_transcript_exon_variant	CDKN2A, CDKN2B-AS1	9e-22	Tier 4: intronic/intergenic
rs893383508	2	21895203	T>C	0.001	intron_variant	LINC01822 - RN7SL117P	1e-11	Tier 4: intronic/intergenic
rs149617956	3	69964940	G>A,T	0.002	stop_gained	MITF	3e-11	Tier 1: coding

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.