PSEN2, presenilin 2, 5664

N. diseases: 146; N. variants: 32
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs63750215
rs63750215
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4
T 0.800 CausalMutation CLINVAR Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. 7651536 1995
dbSNP: rs63750215
rs63750215
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4
0.800 GeneticVariation UNIPROT Candidate gene for the chromosome 1 familial Alzheimer's disease locus. 7638622 1995
dbSNP: rs63750215
rs63750215
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4
0.800 GeneticVariation UNIPROT Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. 7651536 1995
dbSNP: rs63750215
rs63750215
Entrez Id: 5664
Gene Symbol: PSEN2
PSEN2
CUI: C1847200
Disease:
ALZHEIMER DISEASE 4
T 0.800 CausalMutation CLINVAR Candidate gene for the chromosome 1 familial Alzheimer's disease locus. 7638622 1995