Nontoxic goiter

Summary

Nontoxic goiter (MONDO:0001658) is a disease with 40 GWAS associations across 16 studies and 1 clinical trial. A subtype of goiter — broader associated-gene and molecular evidence is on the parent page (see Disease family below).

At a glance

• GWAS associations: 40
• Clinical trials: 1

Clinical features

No curated clinical features (Orphanet) for this disease.

Identifiers

Disease identifiers

Field	Value
Canonical name	nontoxic goiter
Mondo ID	MONDO:0001658
DOID	DOID:13195
NCIT	C35271
UMLS	C0221777
MedGen	113172
Is cancer (heuristic)	no

Also known as: euthyroid goiter · euthyroid goitre · non-toxic goiter · non-toxic simple goiter · nontoxic goiter

Data availability: 40 GWAS associations (16 studies).

Disease family

This is a subtype of goiter. 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 › endocrine system disorder › thyroid gland disorder › goiter › nontoxic goiter

Related subtypes (6): toxic diffuse goiter, dyshormonogenic goiter, endemic goiter, lingual goiter, nodular goiter, substernal goiter

Genetics & variants

GWAS landscape

40 GWAS associations across 16 studies. Top hits map to 16 distinct genes (as reported by GWAS).

Top associations by p-value

rsID	p-value	Gene	Risk allele	Odds ratio
rs17477923	4e-67	FAM227B	T	0.23
rs1203948	9e-54	LNCNEF - LINC01747	G	0.2
rs73398264	8e-51	FAM227B	T	0.22
rs1203930	1e-45	LNCNEF - LINC01747	A	0.22
rs142698837	5e-28	TG	G	1.17
rs12431502	3e-26	ITPK1	G	0.18
rs12461206	3e-25	INSR	A	0.16
rs10917469	1e-23	MICOS10	A	0.15
rs334700	2e-22	NFIA	A	0.21
chr14:93585331	3e-21		G	0.16
rs66760320	3e-21	SCIRT	C	0.12
rs9971770	4e-21	MSRB3-AS1	G	0.21
rs73575085	7e-20	LINC01229, MAFTRR	G	0.11
rs3758723	2e-19	PRDM11	T	0.12
rs116909374	3e-19	LINC00609 - MBIP	C	0.34
chr11:45237858	2e-18		T	0.13
rs59381142	1e-15	RN7SL215P - LINC00887	G	0.11
chr1:218648556	4e-15		C	0.11
chr14:36559531	1e-14		C	0.1
chr6:43901345	2e-14		G	0.23
rs6990149	2e-14	LINC01603	A	0.09
rs675763	4e-14	LINC02869	A	0.1
rs72709458	1e-13	TERT	C	0.12
rs2242652	4e-13	TERT	G	0.11
chr1:61619056	8e-13		C	0.22
rs73575086	1e-12	MAFTRR, LINC01229	T	0.18
chr10:105659826	3e-12		T	0.14
chr12:66044284	5e-12		G	0.17
rs35007589	9e-12	STN1	C	0.14
chr16:79731805	3e-11		G	0.09

Top studies (by case count)

Study	Lead author	Year	Cases	Controls	Title
GCST90475640	Verma A	2024	12,152	433,970	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90473159	UK Biobank Whole-Genome Sequencing Consortium	2025	5,232	453,208	Whole-genome sequencing of 490,640 UK Biobank participants.
GCST90475639	Verma A	2024	4,160	116,022	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90479860	Verma A	2024	4,160	116,022	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90079726	Backman JD	2021	2,457	384,010	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083712	Backman JD	2021	2,457	384,010	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90477295	Verma A	2024	1,180	58,198	Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program.
GCST90079724	Backman JD	2021	815	387,115	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90083710	Backman JD	2021	815	387,115	Exome sequencing and analysis of 454,787 UK Biobank participants.
GCST90726721	Kim HI	2026	768	43,258	Exome sequencing and analysis of 44,028 British South Asians enriched for high autozygosity.

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	32

MAF distribution

Bucket	Variants
common (>=0.05)	30
low_freq (0.01-0.05)	2
rare (<0.01)	1
unknown	0

Functional consequences

Consequence	Count
intron_variant	17
unknown	10
intergenic_variant	4
missense_variant	1
non_coding_transcript_exon_variant	1

Top variants

rsID	Chr	Pos	Alleles	MAF	Consequence	Gene	p-value	Tier
rs17477923	15	49418988	T>C	0.219	intron_variant	FAM227B	4e-67	Tier 4: intronic/intergenic
rs1203948	20	22624134	G>A,C,T	0.289	intergenic_variant	LNCNEF - LINC01747	9e-54	Tier 4: intronic/intergenic
rs73398264	15	49414220	T>C	0.248	intron_variant	FAM227B	8e-51	Tier 4: intronic/intergenic
rs1203930	20	22610197	A>G,T	0.243	intergenic_variant	LNCNEF - LINC01747	1e-45	Tier 4: intronic/intergenic
rs142698837	8	132869781	G>A	0.001	missense_variant	TG	5e-28	Tier 1: coding
rs12431502	14	93097919	G>A	0.159	intron_variant	ITPK1	3e-26	Tier 4: intronic/intergenic
rs12461206	19	7235439	A>C,T	0.196	intron_variant	INSR	3e-25	Tier 4: intronic/intergenic
rs10917469	1	19517082	A>G,T	0.167	intron_variant	MICOS10	1e-23	Tier 4: intronic/intergenic
rs334700	1	61153791	A>C,G,T	0.085	intron_variant	NFIA	2e-22	Tier 4: intronic/intergenic
chr14:93585331				0.197			3e-21	Tier 4: intronic/intergenic
rs66760320	6	43938518	C>T	0.277	intron_variant	SCIRT	3e-21	Tier 4: intronic/intergenic
rs9971770	12	65639270	G>A,C,T	0.076	intron_variant	MSRB3-AS1	4e-21	Tier 4: intronic/intergenic
rs73575085	16	79714179	G>C	0.296	intron_variant	LINC01229, MAFTRR	7e-20	Tier 4: intronic/intergenic
rs3758723	11	45221961	T>C	0.251	intron_variant	PRDM11	2e-19	Tier 4: intronic/intergenic
rs116909374	14	36269155	C>T	0.024	non_coding_transcript_exon_variant	LINC00609 - MBIP	3e-19	Tier 4: intronic/intergenic
chr11:45237858				0.277			2e-18	Tier 4: intronic/intergenic
rs59381142	3	194198392	G>A,C	0.209	intergenic_variant	RN7SL215P - LINC00887	1e-15	Tier 4: intronic/intergenic
chr1:218648556				0.469			4e-15	Tier 4: intronic/intergenic
chr14:36559531				0.455			1e-14	Tier 4: intronic/intergenic
chr6:43901345				0.189			2e-14	Tier 4: intronic/intergenic
rs6990149	8	69446393	A>C,G,T	0.336	intron_variant	LINC01603	2e-14	Tier 4: intronic/intergenic
rs675763	1	218508777	A>C,G,T	0.38	intron_variant	LINC02869	4e-14	Tier 4: intronic/intergenic
rs72709458	5	1283640	C>A,G,T	0.215	intron_variant	TERT	1e-13	Tier 4: intronic/intergenic
rs2242652	5	1279913	G>A	0.175	intron_variant	TERT	4e-13	Tier 4: intronic/intergenic
chr1:61619056				0.172			8e-13	Tier 4: intronic/intergenic
rs73575086	16	79714588	T>A,C	0.263	intron_variant	MAFTRR, LINC01229	1e-12	Tier 4: intronic/intergenic
chr10:105659826				0.099			3e-12	Tier 4: intronic/intergenic
chr12:66044284				0.298			5e-12	Tier 4: intronic/intergenic
rs35007589	10	103895470	C>T	0.078	intron_variant	STN1	9e-12	Tier 4: intronic/intergenic
chr16:79731805				0.32			3e-11	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: 1.

Phase distribution (across all retrieved trials)

Phase	Trials
Not specified	1

Top trials by phase / activity

NCT	Phase	Status	Title
NCT05774535	Not specified	WITHDRAWN	Prospective, Observational Study on the Carotid Intima-media Thickness in Patients Undergoing Thyroid Surgery