Wednesday, October 18, 2017

Variants Genotyped Incorrectly

There are a few SNPs genotyped that seem to be incorrect.  Searching on the X chromosome, I noticed that there is a "DI" for my genotype for rs72554313.  However, there are a few "DI"s on OpenSNP indicating that the genotype is most likely incorrect and I'm not a carrier for Ornithine transcarbamylase (OTC) deficiency .  Another genotype that is probably incorrect is i5036486 on the F8 gene.  There are a few "DI"s on OpenSNP and even a few "DD"s indicating that I'm probably not a carrier for hemophilia.  Whew! 

Being a carrier for something on the X chromosome is serious because any boys would have a 50/50 chance of inheriting the disorder and girls have a 50/50 chance of being carriers.  Carriers do not always get off "scot free" either.  I've heard of carriers of hemophilia having symptoms of the disease.  I suppose it has to do with X-activation (lyonization).

There is another "probably incorrect" genotype on Chromosome 6 for rs7769409 on the CYP21A2 gene.  It is associated with congenital adrenal hyperplasia.  Several people on OpenSNP have the carrier genotype for the rare condition indicating that the genotypes were miscalled.

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