AlzGene - Polymorphism Details
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 Study: Bertram, 2004
 Gene: PSENEN  (PEN2; MDS033; MSTP064; PEN-2; U2AF1L3)  Entrez Gene
 Protein: presenilin enhancer 2  (pen-2; presenilin enhancer 2 homolog (C. elegans))  ProteinLink
 Chromosome: 19   (View: 1  2  3  4  5  6  7  8  9  10  11  12  13  14  15  16  17  18  19  20  21  22  X  Y  MT)
 Status: Updated 5 January 2010
Gene Overview
Total number of polymorphisms investigated by this study: 4

Family-Based Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)
Population   C-Allele T-Allele C/C
(frequency)
C/T
(frequency)
T/T
(frequency)
 Other/Mixed
rs3761087 (promoter I) USA (NIMH) AD
CTR
-
-
-
-
0 (-)
0 (-)
0 (-)
0 (-)
0 (-)
0 (-)
(-) :  Either no data provided, or data otherwise not eligible for inclusion (see methods for details).

Family-Based Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)
Population   A-Allele C-Allele A/A
(frequency)
A/C
(frequency)
C/C
(frequency)
 Other/Mixed
rs2293687 (promoter II) USA (NIMH) AD
CTR
-
-
-
-
0 (-)
0 (-)
0 (-)
0 (-)
0 (-)
0 (-)
(-) :  Either no data provided, or data otherwise not eligible for inclusion (see methods for details).

Family-Based Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)
Population   A-Allele G-Allele A/A
(frequency)
A/G
(frequency)
G/G
(frequency)
 Other/Mixed
rs231238 (3'UTR) USA (NIMH) AD
CTR
-
-
-
-
0 (-)
0 (-)
0 (-)
0 (-)
0 (-)
0 (-)
(-) :  Either no data provided, or data otherwise not eligible for inclusion (see methods for details).

Family-Based Studies (by ethnic group)
  Genotypes
Polymorphism ID#
(Link to NCBI)
Population   G-Allele C-Allele G/G
(frequency)
G/C
(frequency)
C/C
(frequency)
 Other/Mixed
rs2293688 (intron 2) USA (NIMH) AD
CTR
-
-
-
-
0 (-)
0 (-)
0 (-)
0 (-)
0 (-)
0 (-)
(-) :  Either no data provided, or data otherwise not eligible for inclusion (see methods for details).
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Studies: 1395
Genes: 695
Polymorphisms: 2973
Meta-analyses: 320
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The PDGene database is supported by a grant from The Michael J. Fox Foundation in partnership with the Alzheimer Research Forum.

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The National Cell Repository for Alzheimer Disease seeks to recruit 1,000 families with two or more living brothers or sisters who have been diagnosed with late onset Alzheimerís disease.
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