Mutations common in Ashkenazi Jewish populations

Ashkenazi Jews are descendants of Jewish communities established mainly in Eastern Europe along the Rhine River around the 12th century AD. The Ashkenazi Jewish people traditionally married within their community, and genetic mutations that naturally cropped up within the population have been studied extensively.[ref]

Why are Ashkenazi Jews at a higher risk for certain genetic diseases?

People of Ashkenazi Jewish ancestry are at a higher risk of certain genetic diseases. This risk is partly due to historically marrying fairly strictly within their own community. But there is also confirmation bias involved here — a lot of the genetic mutations are known and linked with Ashkenazi ancestry due to more studies being done on the population. Other population groups that didn’t marry much outside of their community also have inherited genetic mutations, but most population groups aren’t as well studied or well known.[ref]

A word of caution:
The genetic data from 23andMe, AncestryDNA, etc., is not guaranteed to be clinically accurate (for the most part). Errors are possible…  When it comes to figuring out whether you should eat more green vegetables or cut down on sugar, the statistical possibility of errors in genetic data is not all that worrisome. For something really important, getting a clinical-grade test done before making any medical decisions is recommended.

Also, keep in mind that errors are possible in the genetics research and that there could be a typo on this page (yes, everything was double-checked…). The mutations listed below are currently marked ‘pathogenic’ or ‘likely pathogenic’ in ClinVar.

This compilation of common Ashkenazi Jewish mutations only covers part of the known mutations. Additionally, people who are not of Ashkenazi Jewish ancestry can also carry these mutations (of course!).

The column labeled ‘risk allele’ contains the letter (A, C, G, T) corresponding to the nucleotide base representing the mutation. For the most part, these are diseases that require two mutations to actually have the disease. So what you are checking for here is to see if you carry one copy of the mutation and are thus a carrier for the disease. These risk alleles are given in the positive (plus) orientation to match 23andMe and AncestryDNA data.


List of common Ashkenazi Jewish mutations:

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“Genetic Roots of the Ashkenazi Jews.” The Scientist Magazine®, https://www.the-scientist.com/daily-news/genetic-roots-of-the-ashkenazi-jews-38580. Accessed 10 Mar. 2022.

NM_000500.5(CYP21A2):C.[701T>A;713T>A;719T>A] AND Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency – ClinVar – NCBI. https://www.ncbi.nlm.nih.gov/clinvar/RCV000055823.1/. Accessed 10 Mar. 2022.

Riordan, Jesse D., and Joseph H. Nadeau. “From Peas to Disease: Modifier Genes, Network Resilience, and the Genetics of Health.” The American Journal of Human Genetics, vol. 101, no. 2, Aug. 2017, pp. 177–91. ScienceDirect, https://doi.org/10.1016/j.ajhg.2017.06.004.

Rs76308115 – SNPedia. https://www.snpedia.com/index.php/Rs76308115. Accessed 10 Mar. 2022.

Strom, Charles M., et al. “Cystic Fibrosis Testing 8 Years on: Lessons Learned from Carrier Screening and Sequencing Analysis.” Genetics in Medicine, vol. 13, no. 2, Feb. 2011, pp. 166–72. www.nature.com, https://doi.org/10.1097/GIM.0b013e3181fa24c4.

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VCV000000432.25 – ClinVar – NCBI. https://www.ncbi.nlm.nih.gov/clinvar/variation/432/. Accessed 10 Mar. 2022.

VCV000000822.46 – ClinVar – NCBI. https://www.ncbi.nlm.nih.gov/clinvar/variation/822/. Accessed 10 Mar. 2022.

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VCV000001550.14 – ClinVar – NCBI. https://www.ncbi.nlm.nih.gov/clinvar/variation/1550/. Accessed 10 Mar. 2022.

VCV000004609.10 – ClinVar – NCBI. https://www.ncbi.nlm.nih.gov/clinvar/variation/4609/. Accessed 10 Mar. 2022.

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VCV000014243.8 – ClinVar – NCBI. https://www.ncbi.nlm.nih.gov/clinvar/variation/14243/. Accessed 10 Mar. 2022.

VCV000017000.48 – ClinVar – NCBI. https://www.ncbi.nlm.nih.gov/clinvar/variation/17000/. Accessed 10 Mar. 2022.

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About the Author:
Debbie Moon is the founder of Genetic Lifehacks. Fascinated by the connections between genes, diet, and health, her goal is to help you understand how to apply genetics to your diet and lifestyle decisions. Debbie has a BS in engineering and also an MSc in biological sciences from Clemson University. Debbie combines an engineering mindset with a biological systems approach to help you understand how genetic differences impact your optimal health.