Gene entry
PSEN1
presenilin 1
- Chromosome
- 14
- Cytoband
- 14q24.2
- Variants (rsID)
- 17
PSEN1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q24.2). Its official name is “presenilin 1”. The reference table lists 17 variants (rsID) for this gene.
Clinically classified variants
9 reference-table entries with clinical significance.
- rs17125721Benignsingle nucleotide variantAlzheimer disease|Alzheimer disease 3|Dilated cardiomyopathy 1U|Alzheimer disease 3|Frontotemporal dementia|Pick disease|Acne inversa, familial, 3
- rs362344Benignsingle nucleotide variantAlzheimer disease 3|Dilated cardiomyopathy 1U
- rs362384Benignsingle nucleotide variantAlzheimer disease 3|Dilated cardiomyopathy 1U
- rs7523Benignsingle nucleotide variantAlzheimer disease 3|Dilated cardiomyopathy 1U
- rs121917809Conflicting interpretationssingle nucleotide variantDilated cardiomyopathy 1U|Heart failure|Primary dilated cardiomyopathy|Pick disease|Frontotemporal dementia|Alzheimer disease 3|Acne inversa, familial, 3
- rs63749824Pathogenicsingle nucleotide variantAlzheimer disease 3|Alzheimer disease 3|Frontotemporal dementia|Pick disease|Acne inversa, familial, 3
- rs63750687Pathogenicsingle nucleotide variantAlzheimer disease 3
- rs63750900Pathogenicsingle nucleotide variantAlzheimer disease 4|Alzheimer disease 3|Acne inversa, familial, 3|Frontotemporal dementia|Pick disease
- rs661Pathogenicsingle nucleotide variantAlzheimer disease 3|Pick disease|Frontotemporal dementia|Alzheimer disease 3|Acne inversa, familial, 3
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.