|(A;G)||7||Alzheimer's disease (reported; but see discussion)|
|(C;G)||7||Alzheimer's disease (reported; but see discussion)|
|(G;G)||0||common in clinvar|
|(G;T)||7||Alzheimer's disease (reported; but see discussion)|
Located in the PSEN1 gene, rs63750306 represents the rare variant site where all three possible single nucleotide mutations are known and considered pathogenic. The c.438G>A, c.438G>C and c.438G>T variants are all also known as p.Met146ILe or M146I.
All three mutations are considered dominantly inherited pathogenic mutations leading to early-onset Alzheimer's disease, at least according to AlzForum, but no citations are provided. In ClinVar, the G>A and G>T variants are (somewhat) annotated as pathogenic.
The G>A variant is reported in [PMID 28350801] to be a "definitely" pathogenic mutation.
|Disease||Alzheimer disease not provided|
|CLNDBN||Alzheimer disease, type 3 not provided|
|CLNSRC||OMIM Allelic Variant UniProtKB (protein)|