rs1991517

A SNP in the LOC101928462 gene on chromosome 14. Its most notable genotype is C;C: no association with increased bone density and TSH

Gene
LOC101928462
Location
Chr 1481,144,239 (GRCh38)
Highest magnitude
1.0Minor
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
11%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CMost notableNot ratedno association with increased bone density and TSHMinor · 1.079% of people
  2. C;GGoodmay have higher bone density and lower TSHMinor · 1.020% of people
  3. G;GGoodmay have higher bone density and lower TSHMinor · 1.01% of people

On SNPedia: (C;C), (C;G), (G;G). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Frequency

Share of each genotype in 4 HapMap populations.

  • AverageC;C 79% C;G 20% G;G 1%
  • European ancestry (Utah)C;C 85% C;G 15% G;G 0%
  • Han Chinese (Beijing)C;C 67% C;G 31% G;G 2%
  • Japanese (Tokyo)C;C 77% C;G 21% G;G 2%
  • Yoruba (Nigeria)C;C 89% C;G 11% G;G 0%

Conditions, medicines and genes

Other LOC101928462 SNPs

All LOC101928462 SNPs

Notes

From SNPedia

Show notes, about 200 words

In 2008, "Effects of serum TSH and FT4 levels and the TSHR-Asp727Glu polymorphism rs1991517 on bone: the Rotterdam Study" revealed that carriers of the TSHR-Glu727 variant (the minor allele) "had a 2·3% higher femoral neck BMD (P = 0·03) and a 12·6% lower TSH level (P = 0·04)." The variant was not associated with T4 hormone levels, nor with BMI, nor with fracture risk. Authors cited a 2005 study () that "demonstrated the presence of TSHR mRNA in human osteoblast cell lines." A 2011 article "Genetics of thyroid function and disease" reviewed past research. Genome-wide association studies have not shown SNPs in TSHR such as rs1991517 to be associated with TSH concentrations at a high level of significance, but together with two other SNPs in other genes, (PDE8B rs4704397 and CAPZB rs10917469, the three SNPs may account for "4.5% of the variation in TSH concentrations." TSHR gene SNPs have not been associated with T3 and T4 thyroid hormone levels, while deiodinase genes such as DIO1 rs2235544 have been associated with them. The authors also cited articles claiming that the often-studied TSHR polymorphism of rs1991517 was relevant to bone density and insulin resistance.

G;G

see Rs1991517

Source and license

Adapted from rs1991517 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.