present in Gene: PSEN1
present in Chromosome: 14
Position on Chromosome: 73206384
Alleles of this Variant: A/T
rs1566650594 in
PSEN1 gene and
ACNE INVERSA, FAMILIAL, 3
PMID 20634584 2010 Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.
PMID 28350801 2017 APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
PMID 26194182 2015 De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.
rs1566650594 in
PSEN1 gene and
Alzheimer disease, familial, type 3
PMID 28350801 2017 APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
PMID 26194182 2015 De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.
PMID 20634584 2010 Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.
rs1566650594 in
PSEN1 gene and
Frontotemporal dementia
PMID 28350801 2017 APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
PMID 20634584 2010 Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.
PMID 26194182 2015 De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.
rs1566650594 in
PSEN1 gene and
Pick Disease of the Brain
PMID 20634584 2010 Familial Alzheimer's disease mutations in presenilins: effects on endoplasmic reticulum calcium homeostasis and correlation with clinical phenotypes.
PMID 26194182 2015 De novo deleterious genetic variations target a biological network centered on Aβ peptide in early-onset Alzheimer disease.
PMID 28350801 2017 APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.