18442 RESULTS
MUTATIONS PSEN1 73659470 GRCh37/hg19 rs1898776259 C A 73192762 GRCh38/hg38 rs1898776259 C A Exon 7 Coding Increased Aβ42 levels and the Aβ42/Aβ40 ratio in cells. Unknown. Q223K Alzheimer's Disease: Not ClassifiedAlzheimer's Disease Detailed information on
MUTATIONS PSEN1 73653574 GRCh37/hg19 rs1898534725 G T 73186866 GRCh38/hg38 G T Exon 6 Coding Unknown, but predicted deleterious in silico (PHRED-scaled CADD score = 28.3). Unknown. W165L Alzheimer's Disease: Not ClassifiedAlzheimer's Disease Detailed info
Washington University in St Louis School of MedicineUnited States
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