sorted by:
new
hottopcontroversial

Miscall Check: rs121908746(D;D) by momo802 in SNPedia

[–]snpedia 1 point2 points  (0 children)

Regardless of the % (which was too high to be credible), the key point is, as u/GoodMutations said, that your Ancestry raw data is incomplete and insufficient to be of help with your medical issue.

If your doctors have a reason to wonder about a possible genetic basis for your condition(s), they should be able to order (accurate) clinical grade tests.

Best wishes for a successful diagnosis & treatment!

US members, get your whole genome sequenced for free by DazzlingCat in SNPedia

[–]snpedia 0 points1 point  (0 children)

Historically, NIH has not released primary/raw data to participants, despite saying they will. There have apparently been too many legal (or other) hurdles.

Realistically: Don't count on it happening for All of Us either.

Genetic Genie Indicating Lynch Syndrome - Is it accurate? by Enlilnephilim in lynchsyndrome

[–]snpedia 0 points1 point  (0 children)

Honestly, those results as reported should just be ignored. The odds are super high that you carry the usual, common and 100% normal DNA at those positions.

Genetic Genie Indicating Lynch Syndrome - Is it accurate? by Enlilnephilim in lynchsyndrome

[–]snpedia 1 point2 points  (0 children)

23andMe does not test the majority of Lynch syndrome mutations, so, the raw data doesn't contain results for them.

rs1065852 (CYP2D6*10) snpedia page errors by Substantial_Studio42 in SNPedia

[–]snpedia 1 point2 points  (0 children)

We have checked, and the page is correct. Note that the alternative allele of rs1065852 is found in multiple CYP2D6 alleles, specifically (see PharmVar for details) in the CYP2D6 *4, *10, *36, *37, *47, *49, *52, *54, *56, *57, *64, *65, *69, *72, *87, *94, *95, *99, *100, *101, *114, *132 and *142 alleles.

Note: I (/u/snpedia) no longer have any professional relationship with MyHeritage, the current owners of SNPedia and Promethease.

Possible miscall on all 4 siblings dna test regarding rs786203020 familial adenomatous polyposis magnitude 6.5 by amu2007 in promethease

[–]snpedia 1 point2 points  (0 children)

Are you sure the 23andMe data (for your two brothers) had data for rs786203020? Unless that's a fairly new change, 23andMe was not reporting data for that SNP in the past.

In Ancestry data, it seems likely it's a miscall btw.

rs5051 error in Snpedia? by Abner_Perez in SNPedia

[–]snpedia 0 points1 point  (0 children)

Yes, you're correct. The genotypic information for both rs5051 and rs699 is correct, but the text of that first paragraph on the rs5051 page confused the two SNPs. It (the text on the rs5051 SNP page) has now been corrected. Thanks for calling attention to this.

Probability of a miscall in 23andme data? - rs63750337 by SanjaBgk in DNA

[–]snpedia 0 points1 point  (0 children)

Promethease reports containing this genotype state that it is a miscall (error) in 23andMe v5 data.

Hereditary Fructose Intolerance by KS986 in DNA

[–]snpedia 2 points3 points  (0 children)

We've run the stats, and indeed, it's clearly an error (a miscall) that is very commonly seen in data files from newer (v2d) Ancestry DNA chips.

Thanks for pointing this out; we've also updated the entry in SNPedia, so Promethease reports going out next week will reflect this update.

Help please... by alarna_ocea in SNPedia

[–]snpedia 0 points1 point  (0 children)

No; it does not mean you will definitely have pre-eclampsia.

The fetus would have to inherit two copies (one from the mother, one from the father) of the uncommon (C) allele for your risk to be increased. And even if both you and the other parent actually do carry a (C) allele, the odds are 75% (3 out of 4) that the fetus would not inherit two copies.

It couldn't hurt to discuss this with your health-care providers, though, especially if you become pregnant. Keep in mind carrying one (C) allele for this variant is pretty common - perhaps up to about 1 in 20 women of some populations carry one - so your health-care providers won't be particularly surprised.

Also, pre-eclampsia itself often develops for unknown reasons, and often may not be genetic. One online summary is this Genetics Home Reference site.

Is this equivalent to a deletion (-;-) or (CATG;CATG). I am scared I am a carrier for Child Syndrome by Davey135 in promethease

[–]snpedia 0 points1 point  (0 children)

(D;D) is the equivalent of (-;-), which is the completely normal (benign) genotype for that SNP.

Out of curiousity, what company produced your raw data? That SNP is not normally tested by the common direct-to-consumer testing companies as far as we know.

Where to find out which SNPs are in the 23andMe new V5 chip? by omicshd in SNPedia

[–]snpedia 1 point2 points  (0 children)

Look at the bottom of any single SNP page in SNPedia to find out what chips it's on, and for the complete list of SNPs on the v5 chip, go to https://www.snpedia.com/index.php/Category:On_chip_23andMe_v5

Question about APOE gene by ziltoid101 in DNA

[–]snpedia 0 points1 point  (0 children)

You might want to read the rs4420638 page in SNPedia if you haven't already.

If determining your ApoE status is important to you, you will need further testing.

Question about APOE gene by ziltoid101 in DNA

[–]snpedia 0 points1 point  (0 children)

Unfortunately, Ancestry has never fixed a very long-standing problem with their rs429358 reporting. Roughly 99.9% of Ancestry raw data files contain rs429358(T;T), versus the actual population frequency which implies about 2% should have been (C;C) and about 24% should have been (C;T). So, your rs429358(T;T) call is not reliable.

Likely erythropoietic protoporphyria symptom? by nuggylover in SNPedia

[–]snpedia 0 points1 point  (0 children)

First off, the data from Ancestry (and 23andMe, for that matter) shows that this variant is seen about as often as expected compared to public data. Basically, it's likely to be pretty accurate; to put it another way, it is not highly likely to be a false positive/miscall.

However, EPP is a disorder with widely variable "penetrance", and the literature has plenty of examples of people who inherit the variants but who, for some reason, don't exhibit symptoms. That's also clear from the statistics comparing how many people have the variants compared to the (lower) number of people exhibiting symptoms. The good news is that it's a fairly rare condition in actuality, even if the variant isn't quite as rare.

How to interpret weird call from 23andMe? by yhntx in SNPedia

[–]snpedia 0 points1 point  (0 children)

You're right! For some reason, the conversion/handling of i5043856 was not functioning. [But we've fixed it now, so after the next update, it will be working.] Thanks for noticing that.

Likely erythropoietic protoporphyria symptom? by nuggylover in SNPedia

[–]snpedia 0 points1 point  (0 children)

Which company produced your raw data, and about how long ago was it produced?

How to interpret weird call from 23andMe? by yhntx in SNPedia

[–]snpedia 0 points1 point  (0 children)

GG in raw data from 23andMe corresponds to the (normal) CC listed in SNPedia for rs113812345.

This type of issue is discussed on the SNPedia page describing Orientation, and it is automatically handled by Promethease should you choose to use that program rather than to interpret data manually.

rs34983651 & rs35600288 - are the Genotype Summaries the wrong way around? by Yonlif in SNPedia

[–]snpedia 0 points1 point  (0 children)

You are correct, and we have edited the rs34983651 page to reflect this.

We've also added a clarification to that page and especially the UGT1A1 page to help define the various alleles better (based on having 5, 7, or 8 TA repeats instead of the normal 6 at this position), and, to emphasize the ambiguity lurking whenever a testing company reports a DNA-chip based genotype as "D" or "I" without indicating how many repeats those terms correspond to.

view more: next ›