{{Rsnum
|rsid=1991517
|Gene=TSHR
|Chromosome=14
|position=81144239
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=C
|GMAF=0.1088
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene_s=LOC101928431,TSHR
}}{{ population diversity
| geno1=(C;C)
| geno2=(C;G)
| geno3=(G;G)
| CEU | 84.6 | 15.4 | 0.0
| HCB | 66.7 | 31.1 | 2.2
| JPT | 77.3 | 20.5 | 2.3
| YRI | 88.9 | 11.1 | 0.0
| ASW | 0.0 | 0.0 | 0.0
| CHB | 66.7 | 31.1 | 2.2
| CHD | 0.0 | 0.0 | 0.0
| GIH | 0.0 | 0.0 | 0.0
| LWK | 0.0 | 0.0 | 0.0
| MEX | 0.0 | 0.0 | 0.0
| MKK | 0.0 | 0.0 | 0.0
| TSI | 0.0 | 0.0 | 0.0
| HapMapRevision=28
}}{{Venter SNP
|rsid=1991517
|allele=C
|frequency=0.917
|uid=1103649110609
|type=homozygous_SNP
|hugo=TSHR
|ensembl gene=ENSG00000165409
|ensembl transcript=ENST00000298171
|sift=TOLERATED
|disease=Defects in TSHR are the cause of nonautoimmune hyperthyroidism (MIM:609152). In a subset of patients with 'congenital Graves disease' the hyperthyroidism is not caused by antithyroid antibodies, but rather by mutations in TSHR. The thyroid gland is enlarged in most patients with nonautoimmune hyperthyroidism, but features of Graves disease, such as thyroid- associated ophthalmopathy, pretibial myxedema, lymphocytic infiltration of the thyroid, and thyroid antibodies, are absent. Hyperthyroidism occurred at any time from the neonatal period to adulthood.
}}

{{ neighbor
| rsid = 28937584
| distance = 284
}}

{{PMID Auto
|PMID=19138047
|Title=Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.
|OA=1
}}

{{GET Evidence
|gene=TSHR
|aa_change=Glu727Asp
|aa_change_short=E727D
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1991517
|overall_frequency_n=9893
|overall_frequency_d=10758
|overall_frequency=0.919595
|n_genomes=56
|n_genomes_annotated=0
|n_haplomes=101
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|nblosum100=-2
|autoscore=2
|n_web_uneval=1
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}