https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=rs1799990
https://www.ncbi.nlm.nih.gov/clinvar/?term=rs1799990
When status reads “pathogenic allele” and a missense conversion is that a confirmed or at risk mutation?
https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?rs=rs1799990
https://www.ncbi.nlm.nih.gov/clinvar/?term=rs1799990
When status reads “pathogenic allele” and a missense conversion is that a confirmed or at risk mutation?