LymeNet Flash: Raw data from 23andme and porphyria

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»	LymeNet Flash » Questions and Discussion » Medical Questions » Raw data from 23andme and porphyria

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Topic: Raw data from 23andme and porphyria

TNT
Frequent Contributor (1K+ posts)
Member # 42349

posted

I've isolated the gene snps that have to do with porphyria from my 23andme raw data. Now, I'm looking for any info that would help me decipher these gene snps.

23andme lists an average of 10-20 snps per porphyria gene. I'm not sure if genetic tests from the porphyria centers (such as Mount Sinai in NYC) check this many snps or not.

Testing for all 8 genes thru Mt. Sinai would total approximately $7500.00! I have no insurance.

I did consider asking the counselor at Mt. Sinai if my 23andme results could be used by them for the price of a consultation. But, I doubt they would be able to do that.

So, if anyone has any ideas about how to decipher these particular snps, it would be extremely helpful.

Posts: 1308 | From Eastern USA | Registered: Oct 2013 | IP: Logged |

TNT
Frequent Contributor (1K+ posts)
Member # 42349

posted

I have just found this website. I hope it can help me in my quest.

http://omim.org/

More ideas???

Posts: 1308 | From Eastern USA | Registered: Oct 2013 | IP: Logged |

Judie
Frequent Contributor (1K+ posts)
Member # 38323

posted

There's a site that does that. I posted on another thread:

23andme Raw Data Analysis Fun
http://flash.lymenet.org/scripts/ultimatebb.cgi?ubb=get_topic;f=1;t=127895;p=0#000000

Eupedia (free, clunky to navigate but good info)
http://www.eupedia.com/genetics/autoimmune_diseases_snp.shtml

Shows the genes involved for everything from autoimmune illnesses to physical and health-related traits.

I looked up porphyria and celiac which I've always been curious about.

Download the SNPtips add on (only works in firefox) and your gene results will show up right next to each category. You can then click on them to compare your data.

SNPtips instructions:
http://snptips.5amsolutions.com/help/

SNPtips can be enabled to work on ANY webpage too.

Posts: 2839 | From California | Registered: Jul 2012 | IP: Logged |

TNT
Frequent Contributor (1K+ posts)
Member # 42349

posted

Hi Judie,

Thanks for piping in! I had forgotten about your thread. Thanks for reminding me.

Which site gave you your porphyria info? I just checked eupedia and they only give 2 or 3 genes.

When I had first gotten my 23and me results, I had run promethease. I don't remember any porphyria-related info. Unfortunately, I will have to rerun that one if I want to double check, since my hard drive has crashed since then.

Thankfully I didn't lose much other than that.
I learned the value of doing consistent backups since then.

Posts: 1308 | From Eastern USA | Registered: Oct 2013 | IP: Logged |

Judie
Frequent Contributor (1K+ posts)
Member # 38323

posted

Eupedia, the info is above.

There were 2 genes in promethease and you might have needed both.

It's been awhile.

Posts: 2839 | From California | Registered: Jul 2012 | IP: Logged |

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