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Genes and mutations associated with gastrointestinal disorders

If you tested your DNA with a personal genomics service like 23andMe, DeCODEme, FTDNA's Family Finder or another testing company, you can learn more about your risk factors for hundreds of diseases. Many of these SNP's are tested but not (yet) part of the report provided by personal genomics companies. This is free extra information.

We recommend that you install the SNPTips add-on for Mozilla Firefox to browse these pages. It allows you to upload your DNA results in the browser and show instantly which allele variant you have for each of the SNP listed below.

What can DNA tell you about yourself ?

List of gastrointestinal disorders with associated genes and SNP's

Risk alleles : Substantially lower risk (over 3x less), moderately lower risk (up to 3x less), normal, slightly higher risk (up to 3x more), greatly increased risk (over 3x more). Normal alleles marked with a * mean that the person is a carrier of the disease. Depending on the testing company, sometimes A is reported as T, and G is reported as C, or vice-versa.

Testing companies :
A = 23andMe
(all versions) ; A2* = 23andMe (v2 only) ; A2 = 23andMe (v2 & v3) ; A3 = 23andMe (v3 only)
B = DeCODEme
Bold letters indicate that the SNP is part of the official report, and is therefore likely to be more reliable. Only SNP's in the official report are listed for deCODEme.

Description Chromosome Gene SNP Risk alleles Tested by*
Acid reflux disease (GERD) 10 CYP2C19
Acid reflux disease
(Eosinophilic esophagitis)
7 CCL26 rs2302009 AA, AC, CC A
Gallstones 8 ADRB3 rs4994 AA, AG, GG A
Kidney Disease 15 MTHFS rs6495446 CC, CT, TT A
6 PKHD1 rs28937907 A
rs28939099 A2
rs28939383 A
16 UMOD rs28934584 A
Kidney stones (hypercalcaemia) 3 CASR
Non-alcoholic fatty liver disease 4 PPARGC1A rs2290602 GG, GT, TT


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