Gene entry
PSEN2
presenilin 2
- Chromosome
- 1
- Cytoband
- 1q42.13
- Variants (rsID)
- 22
PSEN2 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 1 (region 1q42.13). Its official name is “presenilin 2”. The reference table lists 22 variants (rsID) for this gene.
Clinically classified variants
12 reference-table entries with clinical significance.
- rs11405Benignsingle nucleotide variantDilated cardiomyopathy 1V|Alzheimer disease 4
- rs147702142Benignsingle nucleotide variantDilated cardiomyopathy 1V|Alzheimer disease 4
- rs61730652Benignsingle nucleotide variantDilated cardiomyopathy 1V|Alzheimer disease 4
- rs63750197Benignsingle nucleotide variantAlzheimer disease 4|Dilated cardiomyopathy 1V|Alzheimer disease
- rs28936379Pathogenicsingle nucleotide variantAlzheimer disease 4
- rs28936380Pathogenicsingle nucleotide variantAlzheimer disease 4
- rs63749851Pathogenicsingle nucleotide variantAlzheimer disease 4
- rs63749884Pathogenicsingle nucleotide variantAlzheimer disease 4
- rs63750048Pathogenicsingle nucleotide variantAlzheimer disease 4
- rs63750215Pathogenicsingle nucleotide variantAlzheimer disease 4
- rs63750110Uncertain significancesingle nucleotide variantAlzheimer disease 4|Alzheimer disease
- rs63750666Uncertain significancesingle nucleotide variantAlzheimer disease 4
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.