Dear All,
I would like to ask you to post here your results -if you have your DNA analysed- to check for the pathogenic rs7755898 , with ‘T’ being the risk allele.
CYP21A2 is important because it is related to adrenal hyperplasia but also with SRD5A2 (5-alpha reductase 2) as seen here:
This SNP has quite a small fequency: 0.25%
Thank you in advance
Not sure I’ve done this right, but ctrl+f-ed results for “7755898” and none came up.
It has not being analyzed i believe
False alarm everyone, this SNP has a lot of miscalls if your data is from 23andme.
@mariovitali, thanks for catching this early and relaying the information.
Found this on a search of the particular SNP in question:
https://www.snpedia.com/index.php/Rs7755898
This SNP is supposed to serve as a marker for the Q318X null allele of the 21-hydroxylase gene. This would generally be associated, when homozygous, with the most severe form of congenital adrenal hyperplasia (salt wasting). However, a random survey of 10 publicly uploaded genomes showed all 10 to be carriers. This is well out of Hardy-Weinberg equilibrium, making the accuracy of this SNP as reported by 23andme suspect. Positive results should be clinically correlated and verified in cooperation with your health care provider.
No problem, Thank you for providing more information. However i still do believe that CYP21A2 is of interest. Please have a look at the following post:
