rs6259

A SNP in the SHBG gene on chromosome 17. Its most notable genotype is A;A: normal

Gene
SHBG
Location
Chr 177,633,209 (GRCh38)
Highest magnitude
0.0Typical
Tested on
23andMe, AncestryDNA, FamilyTreeDNA
Minor allele frequency
9%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. A;AMost notableNot ratednormalTypical · 0.01% of people
  2. A;GNot ratednormalTypical · 0.012% of people
  3. G;GGoodbest inverse correlation between tea-drinking, soy-consuming premenopausal women and risk of endometrial cancerTypical · 0.086% of people

On SNPedia: (A;A), (A;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 11 HapMap populations.

  • AverageA;A 1% A;G 12% G;G 86%
  • European ancestry (Utah)A;A 4% A;G 20% G;G 76%
  • Han Chinese (Beijing)A;A 4% A;G 29% G;G 67%
  • Japanese (Tokyo)A;A 3% A;G 20% G;G 78%
  • Yoruba (Nigeria)A;A 0% A;G 0% G;G 100%
  • African ancestry (Southwest US)A;A 0% A;G 7% G;G 93%
  • Chinese (Denver)A;A <1% A;G 17% G;G 82%
  • Gujarati IndianA;A 0% A;G 13% G;G 87%
  • Luhya (Kenya)A;A 0% A;G 2% G;G 98%
  • Mexican ancestry (Los Angeles)A;A 0% A;G 7% G;G 93%
  • Maasai (Kenya)A;A 0% A;G 6% G;G 94%
  • TuscanA;A 2% A;G 16% G;G 82%

Conditions, medicines and genes

Notes

From SNPedia

Show notes, about 380 words

rs6259, also known as Asp327Asn, is a SNP in the sex hormone-binding globulin SHBG gene. The rs6259(G) allele encodes the Asp, while the rs6259(A) allele encodes the Asn. rs6259 was associated with decreased risk of endometrial cancer, particularly among postmenopausal women (odds ratio 0.79, CI: 0.62-1.00), in a case-control study of 1,199 endometrial cancer patients and 1,212 controls. There was an inverse association of soy intake and tea consumption being more evident for those with the rs6259(G;G) genotype, particularly premenopausal women (P(interaction) = 0.06 and 0.02, respectively, for soy isoflavones and tea intake). In other words, premenopausal rs6259(G;G) women have reduced risk for endometrial cancer when they intake more soy and consume more tea. Human variant sex hormone-binding globulin (SHBG) with an additional carbohydrate chain has a reduced clearance rate in rabbit Ovarian cancer risk and common variation in the sex hormone-binding globulin gene: a population-based case-control study. Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response. Polymorphisms in genes involved in sex hormone metabolism, estrogen plus progestin hormone therapy use, and risk of postmenopausal breast cancer. Polymorphisms of estrogen-related genes jointly confer susceptibility to human spermatogenic defect. Polymorphisms in estrogen- and androgen-metabolizing genes and the risk of gastric cancer. Identification of common variants in the SHBG gene affecting sex hormone-binding globulin levels and breast cancer risk in postmenopausal women. Asp327Asn polymorphism of sex hormone-binding globulin gene is associated with systemic lupus erythematosus incidence. Serotonin-1A receptor gene polymorphism and the ability of antipsychotic drugs to improve attention in schizophrenia. Usefulness of Mendelian randomization in observational epidemiology. Coffee and caffeine consumption in relation to sex hormone-binding globulin and risk of type 2 diabetes in postmenopausal women. Polymorphisms in the SHBG gene influence serum SHBG levels in women with polycystic ovary syndrome. Quantitative trait analysis suggests polymorphisms of estrogen-related genes regulate human sperm concentrations and motility.

Source and license

Adapted from rs6259 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.