• C= predicted to create an extra binding site for the transcription factor XBP1 [R].

The "C" allele is associated with:

  • Higher risk of Barrett Esophagus syndrome [R], which is marked by lower throat tissue damage and which may increase your risk for esophageal cancer [R]. In a study of an Irish population, people with the CC genotype were more than twice as likely to have BE syndrome than those with the TT genotype [R].

  • Increased bone mineral density(BDM) [R]. Based on a study of southern Chinese women, the C allele is associated with higher BDM at 4 locations: Lumbar spine, Femoral neck, Trochanter, and at the hip [R].  

  • Increased risk of Ischemic Stroke [R].

  • Increased risk of Pancreatic cancer in overweight subjects. According to a study of a japanese population, individuals who had a body mass index greater than 25 at age 20 and the C allele were more likely to have pancreatic cancer [R].

The "T" allele is associated with:

  • Increased risk of colorectal cancer [R] in T allele carriers. In an Austrian study of over 3000 caucasian men, individuals with the TT genotype are roughly 1.8 times more likely to be diagnosed with this type of cancer. They are also more likely to have have a high risk colon growth “polyp” present.

  • Higher risk of Throat Cancer (Esophageal Squamous cell carcinoma)  [R]. In one dutch study, individuals with the TT genotype were 1.5 x more likely to be diagnosed with this cancer than CC individuals.  

  • Increased risk for Head and neck cancer in women, according to a dutch study [R].

  • Decreased risk of Barrett Esophagus syndrome [R].


  • Females with the G/A alleles at Rs6241/ Rs5742694, started menstruation later on average than those without the presence of this haplotype [R].

This SNP is associated with (unknown  which alleles):

  • Age at the onset of menstruation, based on a study of caucasian Americans [R].


Parent Gene: IGF1

Importance: 4
Less common allele: T = 43%
More common allele: C = 57%
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