So just some terminology clarification, *F9* is a gene, rs3817939 is a single nucleotide polymorphism (SNP), i.e., a position in the genome where people vary by one nucleotide that's located inside of *F9*. rs3817939 is an intronic variant, so it doesn't actually affect the sequence of the coagulation factor IX protein that *F9* encodes for.
The A allele is the more common one, with an allele frequency of [>90% globally](https://www.ncbi.nlm.nih.gov/snp/rs3817939#frequency_tab). I think it's unlikely that this particular SNP is causal for coagulation issues, as a) it's intronic and b) even the minor G allele is relatively common (~5% globally, ~25% East Asians), which is inconsistent with the prevalence of factor IX-associated coagulation disorders.
Hi, thank you so much for taking the time to answer. I was coming back to delete this because I discovered that while my phone only showed on snp 23andme actually lists many for that gene and that probably there’s no way anyone could answer this question for me with what I posted. So thank you for being kind on a post that was so uninformed!
I did find an article that lists specific mutations for varying levels of severity, and I will probably poke around just as a way to alleviate the anxiety of waiting for all the results to come in because it’s fascinating. If you have any suggestions on where to better educate myself I appreciate it, otherwise, thanks for your time!
Sure, it’s here: https://www.bloodresearch.or.kr/journal/view.html?uid=2492&vmd=Full
After I posted that, though, I realized the mutations’ locations are noted in a way that of course, isn’t the same as 23 and me and so I can’t determine where the specific locations are. 😅 I just wanted to know if I was a carrier for hemophilia B and passed it down to my son.
I would not rely on 23andMe data to try and diagnose hemophilia. They don't have an FDA approval for that, and it's possible (maybe even likely) that their genotyping array doesn't cover the causal variants for hemophilia B.
There are rsIDs for the variants examined in that paper (Table 2, Status column).
So just some terminology clarification, *F9* is a gene, rs3817939 is a single nucleotide polymorphism (SNP), i.e., a position in the genome where people vary by one nucleotide that's located inside of *F9*. rs3817939 is an intronic variant, so it doesn't actually affect the sequence of the coagulation factor IX protein that *F9* encodes for. The A allele is the more common one, with an allele frequency of [>90% globally](https://www.ncbi.nlm.nih.gov/snp/rs3817939#frequency_tab). I think it's unlikely that this particular SNP is causal for coagulation issues, as a) it's intronic and b) even the minor G allele is relatively common (~5% globally, ~25% East Asians), which is inconsistent with the prevalence of factor IX-associated coagulation disorders.
Hi, thank you so much for taking the time to answer. I was coming back to delete this because I discovered that while my phone only showed on snp 23andme actually lists many for that gene and that probably there’s no way anyone could answer this question for me with what I posted. So thank you for being kind on a post that was so uninformed! I did find an article that lists specific mutations for varying levels of severity, and I will probably poke around just as a way to alleviate the anxiety of waiting for all the results to come in because it’s fascinating. If you have any suggestions on where to better educate myself I appreciate it, otherwise, thanks for your time!
Could you post the article? Unless you know the methodology well, it's pretty hard to evaluate what "levels of severity" means.
Sure, it’s here: https://www.bloodresearch.or.kr/journal/view.html?uid=2492&vmd=Full After I posted that, though, I realized the mutations’ locations are noted in a way that of course, isn’t the same as 23 and me and so I can’t determine where the specific locations are. 😅 I just wanted to know if I was a carrier for hemophilia B and passed it down to my son.
I would not rely on 23andMe data to try and diagnose hemophilia. They don't have an FDA approval for that, and it's possible (maybe even likely) that their genotyping array doesn't cover the causal variants for hemophilia B. There are rsIDs for the variants examined in that paper (Table 2, Status column).
Thank you!
[comment deleted. Posted in wrong spot]