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Disclaimer- The information provided here is for educational purposes, I am not a medical professional nor a genetics professional. While I can describe some of the things I have learned and researched, each individual is different and what worked for me may not work for you.

Using OMIM

OMIM: http://omim.org/ Online Mendelian Inheritance in Man, is a database of researched genetic mutations with short summary of the SNP's that have disease causing effects or produce some detrimental change. Put the Gene name in the search box, like MTHFR. They have made the interface more friendly recently.

There are usually 2 pages or files associated with each gene. One is a description and information page but will have links to the other files with something that looks like this, 607093.0003 . The first part of the number is the file number, the second part is like a sub-section number.

Here are 2 PDF files showing OMIM entries for MTHFR with SNPTips turned on. The green outline which is hard to see is showing I have an entry for that SNP. The gray outline means it is not in my file. In a real search it is a solid green or gray box, not just the outline and much easier to see.

#236250
HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY

*607093
5,10-METHYLENETETRAHYDROFOLATE REDUCTASE; MTHFR

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