Human SNP ID | rs429358 |
---|---|
Human chromosome | chr19 |
Human SNP position | 44908684 |
Pig chromosome | chr6 |
Pig SNP position | 47271504 |
PubMed ID | 21123754 |
---|---|
Journal | Neurology |
Link | www.ncbi.nlm.nih.gov/pubmed/21123754 |
Study | Genome-wide association study of CSF biomarkers Abeta1-42, t-tau, and p-tau181p in the ADNI cohort. |
Disease/Trait | Alzheimer__s disease biomarkers |
Initial sample | 96 European ancestry Alzheimer disease cases, 176 European ancestry individuals with mild cognitive impairment, 102 European ancestry controls |
Replication sample | NA |
Region | 19q13.32 |
Chromosome id | chr19 |
Chromosome position | 44908684 |
Reported gene | APOE |
Mapped gene | APOE |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 348 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs429358-? |
SNPs | rs429358 |
Merged | 0 |
SNP id current | 429358 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 0.000001 |
Pvalue mlog | 6 |
P value text | (AB1-42, p-tau181p, p-tau181p/AB1-42, t-tau/AB1-42) |
Or beta | |
%95 Ci | |
Platform | Illumina [322557] |
CNV | N |
Mapped trait | p-tau measurement, beta-amyloid 1-42 measurement, Alzheimers disease, t-tau measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004763, http://www.ebi.ac.uk/efo/EFO_0004670, http://www.ebi.ac.uk/efo/EFO_0000249, http://www.ebi.ac.uk/efo/EFO_0004760 |
Study accession | GCST000900 |
PubMed ID | 20100581 |
Journal | Neuroimage |
Link | www.ncbi.nlm.nih.gov/pubmed/20100581 |
Study | Whole genome association study of brain-wide imaging phenotypes for identifying quantitative trait loci in MCI and AD: A study of the ADNI cohort. |
Disease/Trait | Brain imaging |
Initial sample | 175 European ancestry Alzheimer cases, 354 European ancestry amnestic mild cognitive impairment cases, 204 European ancestry controls |
Replication sample | NA |
Region | 19q13.32 |
Chromosome id | chr19 |
Chromosome position | 44908684 |
Reported gene | APOE |
Mapped gene | APOE |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 348 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs429358-? |
SNPs | rs429358 |
Merged | 0 |
SNP id current | 429358 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | |
Pvalue mlog | |
P value text | <1 x 10-6 (multiple phenotypes) |
Or beta | |
%95 Ci | |
Platform | Illumina [530992] |
CNV | N |
Mapped trait | neuroimaging measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004346 |
Study accession | GCST000573 |
PubMed ID | 23419831 |
Journal | Mol Psychiatry |
Link | www.ncbi.nlm.nih.gov/pubmed/23419831 |
Study | APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. |
Disease/Trait | Alzheimer__s disease biomarkers |
Initial sample | 555 European ancestry individuals |
Replication sample | NA |
Region | 19q13.32 |
Chromosome id | chr19 |
Chromosome position | 44908684 |
Reported gene | APOE |
Mapped gene | APOE |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 348 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs429358-C |
SNPs | rs429358 |
Merged | 0 |
SNP id current | 429358 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.28 |
P value | 0.00000000000005 |
Pvalue mlog | 13.3010299956639 |
P value text | (Cortical Ab) |
Or beta | |
%95 Ci | |
Platform | Illumina [6108668] (imputed) |
CNV | N |
Mapped trait | amyloid-beta measurement, Alzheimers disease |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0005194, http://www.ebi.ac.uk/efo/EFO_0000249 |
Study accession | GCST001868 |
PubMed ID | 25027320 |
Journal | Hum Mol Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/25027320 |
Study | SUCLG2 identified as both a determinator of CSF A脽1-42-levels and an attenuator of cognitive decline in Alzheimer__s disease. |
Disease/Trait | Cerebrospinal AB1-42 levels in Alzheimer__s disease dementia |
Initial sample | 363 European ancestry individuals |
Replication sample | 515 individuals |
Region | 19q13.32 |
Chromosome id | chr19 |
Chromosome position | 44908684 |
Reported gene | APOE |
Mapped gene | APOE |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 348 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs429358-? |
SNPs | rs429358 |
Merged | 0 |
SNP id current | 429358 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.442 |
P value | 0.00000000000000004 |
Pvalue mlog | 16.397940008672 |
P value text | |
Or beta | 0.4 |
%95 Ci | [0.30-0.50] unit decrease |
Platform | Illumina [6812394] (imputed) |
CNV | N |
Mapped trait | beta-amyloid 1-42 measurement, Alzheimers disease |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004670, http://www.ebi.ac.uk/efo/EFO_0000249 |
Study accession | GCST002531 |
PubMed ID | 26252872 |
Journal | PLoS One |
Link | www.ncbi.nlm.nih.gov/pubmed/26252872 |
Study | Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aå°¾1-42 Level. |
Disease/Trait | Cerebral amyloid deposition (PET imaging) |
Initial sample | up to 883 European and other ancestry individuals |
Replication sample | NA |
Region | 19q13.32 |
Chromosome id | chr19 |
Chromosome position | 44908684 |
Reported gene | PVRL2, APOE, APOC1, APOC1P1, TOMM40 |
Mapped gene | APOE |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 348 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs429358-T |
SNPs | rs429358 |
Merged | 0 |
SNP id current | 429358 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.02 |
P value | 8E-32 |
Pvalue mlog | 31.096910013008 |
P value text | |
Or beta | 0.13 |
%95 Ci | [NR] unit decrease |
Platform | Illumina [~ 9000000] (imputed) |
CNV | N |
Mapped trait | cerebral amyloid deposition measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0007707 |
Study accession | GCST003073 |
PubMed ID | 25961943 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/25961943 |
Study | The impact of low-frequency and rare variants on lipid levels. |
Disease/Trait | HDL cholesterol |
Initial sample | up to 62,166 European ancestry individuals |
Replication sample | NA |
Region | 19q13.32 |
Chromosome id | chr19 |
Chromosome position | 44908684 |
Reported gene | APOE |
Mapped gene | APOE |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 348 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs429358-T |
SNPs | rs429358 |
Merged | 0 |
SNP id current | 429358 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.84 |
P value | 0.00000000000001 |
Pvalue mlog | 14 |
P value text | |
Or beta | 0.066 |
%95 Ci | [0.048-0.084] s.d. increase |
Platform | Affymetrix, Illumina, Perlegen [up to 9657952] (imputed) |
CNV | N |
Mapped trait | high density lipoprotein cholesterol measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0004612 |
Study accession | GCST002899 |
PubMed ID | 26252872 |
Journal | PLoS One |
Link | www.ncbi.nlm.nih.gov/pubmed/26252872 |
Study | Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid Aå°¾1-42 Level. |
Disease/Trait | Cerebral amyloid deposition positivity (PET imaging) |
Initial sample | up to 350 European and other ancestry positive individuals, up to 296 European and other ancestry negative individuals |
Replication sample | NA |
Region | 19q13.32 |
Chromosome id | chr19 |
Chromosome position | 44908684 |
Reported gene | APOE, APOC1, APOC1P1, PVRL2, TOMM40 |
Mapped gene | APOE |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 348 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs429358-C |
SNPs | rs429358 |
Merged | 0 |
SNP id current | 429358 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.85 |
P value | 5E-20 |
Pvalue mlog | 19.3010299956639 |
P value text | |
Or beta | 4.72 |
%95 Ci | [4.39-5.05] |
Platform | Illumina [~ 9000000] (imputed) |
CNV | N |
Mapped trait | cerebral amyloid deposition measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0007707 |
Study accession | GCST003077 |
PubMed ID | 25188341 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/25188341 |
Study | Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer__s Disease and Related Dementias. |
Disease/Trait | Lewy body disease |
Initial sample | up to 3,526 individuals |
Replication sample | NA |
Region | 19q13.32 |
Chromosome id | chr19 |
Chromosome position | 44908684 |
Reported gene | APOE, LOC100129500 |
Mapped gene | APOE |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 348 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs429358-C |
SNPs | rs429358 |
Merged | 0 |
SNP id current | 429358 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.732 |
P value | 0.000000000001 |
Pvalue mlog | 12 |
P value text | (Ordinal I) |
Or beta | 0.4997 |
%95 Ci | [0.36-0.64] unit decrease |
Platform | Affymetrix, Illumina [NR] (imputed) |
CNV | N |
Mapped trait | Lewy body dementia, Lewy body dementia measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0006792, http://www.ebi.ac.uk/efo/EFO_0006799 |
Study accession | GCST002591 |
PubMed ID | 25188341 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/25188341 |
Study | Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer__s Disease and Related Dementias. |
Disease/Trait | Lewy body disease |
Initial sample | up to 3,526 individuals |
Replication sample | NA |
Region | 19q13.32 |
Chromosome id | chr19 |
Chromosome position | 44908684 |
Reported gene | APOE, LOC100129500 |
Mapped gene | APOE |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 348 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs429358-C |
SNPs | rs429358 |
Merged | 0 |
SNP id current | 429358 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.7347 |
P value | 0.000000000005 |
Pvalue mlog | 11.3010299956639 |
P value text | (Ordinal II) |
Or beta | 0.508 |
%95 Ci | [0.36-0.65] unit decrease |
Platform | Affymetrix, Illumina [NR] (imputed) |
CNV | N |
Mapped trait | Lewy body dementia, Lewy body dementia measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0006792, http://www.ebi.ac.uk/efo/EFO_0006799 |
Study accession | GCST002591 |
PubMed ID | 25188341 |
Journal | PLoS Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/25188341 |
Study | Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer__s Disease and Related Dementias. |
Disease/Trait | Lewy body disease |
Initial sample | up to 3,526 individuals |
Replication sample | NA |
Region | 19q13.32 |
Chromosome id | chr19 |
Chromosome position | 44908684 |
Reported gene | APOE, LOC100129500 |
Mapped gene | APOE |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 348 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs429358-C |
SNPs | rs429358 |
Merged | 0 |
SNP id current | 429358 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | 0.7344 |
P value | 0.00000000003 |
Pvalue mlog | 10.5228787452803 |
P value text | (Case/control) |
Or beta | 0.4905 |
%95 Ci | [0.35-0.63] unit decrease |
Platform | Affymetrix, Illumina [NR] (imputed) |
CNV | N |
Mapped trait | Lewy body dementia, Lewy body dementia measurement |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0006792, http://www.ebi.ac.uk/efo/EFO_0006799 |
Study accession | GCST002591 |
PubMed ID | 26691988 |
Journal | Nat Genet |
Link | www.ncbi.nlm.nih.gov/pubmed/26691988 |
Study | A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. |
Disease/Trait | Advanced age-related macular degeneration |
Initial sample | 16,144 European ancestry cases, 17,832 European ancestry controls |
Replication sample | 473 Asian ancestry cases, 1,099 Asian ancestry controls, 52 African ancestry cases, 361 African ancestry cases, 254 other non-European ancestry cases, 694 other non-European ancestry controls |
Region | 19q13.32 |
Chromosome id | chr19 |
Chromosome position | 44908684 |
Reported gene | APOE |
Mapped gene | APOE |
Upstream gene id | |
Downstream gene id | |
SNP gene ids | 348 |
Upstream gene distance | |
Downstream gene distance | |
SNP risk allele | rs429358-? |
SNPs | rs429358 |
Merged | 0 |
SNP id current | 429358 |
Context | missense_variant |
Intergenic | 0 |
Allele frequency | NR |
P value | 2E-42 |
Pvalue mlog | 41.698970004336 |
P value text | (EA) |
Or beta | 1.4285715 |
%95 Ci | |
Platform | Illumina [12023830] (imputed) |
CNV | N |
Mapped trait | age-related macular degeneration, wet macular degeneration |
Mapped trait URI | http://www.ebi.ac.uk/efo/EFO_0001365, http://www.ebi.ac.uk/efo/EFO_0004683 |
Study accession | GCST003219 |